List of variants studied for congenital diarrhea 6

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004963.4(GUCY2C):c.843T>G (p.Phe281Leu)	rs1420635	0.98731
NM_004963.4(GUCY2C):c.612-16C>A	rs58911033	0.93062
NM_004963.4(GUCY2C):c.1534-30C>G	rs7313027	0.91649
NM_004963.4(GUCY2C):c.2022C>T (p.Ile674=)	rs10772800	0.83038
NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser)	rs143367522	0.00048
NM_004963.4(GUCY2C):c.1967A>G (p.Asn656Ser)	rs1435086834	0.00005
NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)	rs371835339	0.00003
NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val)	rs551796026	0.00001
NM_004963.4(GUCY2C):c.2875+99A>G	rs1415414290	0.00001
NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro)	rs1947669606
NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)	rs562942379
NM_004963.4(GUCY2C):c.2158-16dup	rs3217210
NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro)	rs1947002584
NM_004963.4(GUCY2C):c.2356T>C (p.Tyr786His)	rs2136990175
NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile)	rs587776871
NM_004963.4(GUCY2C):c.367T>A (p.Ser123Thr)
NM_004963.4(GUCY2C):c.612-11del	rs56944147

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.