List of variants studied for congenital diarrhea by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001080467.3(MYO5B):c.3001A>T (p.Ile1001Phe)	rs61737447	0.00139
NM_012079.6(DGAT1):c.751+2T>C	rs148665132	0.00014
NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)	rs371835339	0.00003
NM_004174.4(SLC9A3):c.1862A>G (p.Gln621Arg)	rs202223784	0.00002
NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys)	rs373363244	0.00002
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)	rs781030322	0.00001
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)	rs121913032
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter)	rs1598870169
NM_001365310.2(PERCC1):c.348C>G (p.Tyr116Ter)
NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys)	rs150434452

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.