ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance for Cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00007
NM_000335.5(SCN5A):c.101G>A (p.Arg34His) rs199473046 0.00005
NM_000335.5(SCN5A):c.4811-5C>T rs765962519 0.00005
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His) rs776705132 0.00004
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00002
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met) rs199473314 0.00002
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val) rs199473120 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val) rs779999584 0.00001
NM_000335.5(SCN5A):c.1762C>T (p.His588Tyr) rs748732150
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.274-5C>T rs773669619
NM_000335.5(SCN5A):c.3664G>C (p.Ala1222Pro) rs863225118
NM_000335.5(SCN5A):c.3743_3744delinsAT (p.Val1248Asp) rs2471599876
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5894C>A (p.Ser1965Tyr) rs1575703249

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.