ClinVar Miner

List of variants in gene TRPC6 reported as likely benign for Focal segmental glomerulosclerosis 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004621.6(TRPC6):c.948T>C (p.Asn316=) rs139477687 0.00035
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup) rs778276152 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_004621.6(TRPC6):c.213T>A (p.Val71=) rs138123801 0.00010
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val) rs150033580 0.00010
NM_004621.6(TRPC6):c.1899C>T (p.Asp633=) rs187196477 0.00007
NM_004621.6(TRPC6):c.1294-4G>A rs190191809 0.00002
NM_004621.6(TRPC6):c.*3C>T rs199566055 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=) rs144085223
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) rs201818043

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.