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URL: https://omim.org/allelicVariants/604882

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NEUROGENIN 3; NEUROG3

Allelic Variants (10 Selected Examples) :

Number 👁 Image
 		Phenotype 👁 Image
 		Mutation 👁 Image
 		SNP gnomAD ClinVar
.0001 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, ARG107SER rs121917837 rs121917837 RCV000005648...
.0002 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, ARG93LEU rs121917838 rs121917838 RCV000005649...
.0003 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, GLU28TER - - RCV005235802
.0004 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, LEU135PRO - - RCV005235803
.0005 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, GLU123TER - - RCV005235804
.0006 DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3, 1-BP DUP, 510G - - RCV005235805
.0007 DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3, THR138ARG - - RCV005235801
.0008 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, ILE132PHE - - RCV005235806
.0009 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, THR124ARG (SCV002029230) - - RCV005235807
.0010 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, ARG95PRO (SCV002029231) - - RCV005235808


604882

NEUROGENIN 3; NEUROG3

Allelic Variants (10 Selected Examples :

Number Phenotype Mutation SNP gnomAD ClinVar
.0001 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, ARG107SER rs121917837 rs121917837 RCV000005648, RCV003407280, RCV006461105
.0002 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, ARG93LEU rs121917838 rs121917838 RCV000005649, RCV001851676
.0003 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, GLU28TER - - RCV005235802
.0004 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, LEU135PRO - - RCV005235803
.0005 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, GLU123TER - - RCV005235804
.0006 DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3, 1-BP DUP, 510G - - RCV005235805
.0007 DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3, THR138ARG - - RCV005235801
.0008 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS NEUROG3, ILE132PHE - - RCV005235806
.0009 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, THR124ARG ({dbSNP SCV002029230}) - - RCV005235807
.0010 DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY NEUROG3, ARG95PRO ({dbSNP SCV002029231}) - - RCV005235808




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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
Printed: April 5, 2026