ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_000335.4(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.435C>T (p.Cys145=) rs587781159
NM_000335.4(SCN5A):c.4908C>T (p.Ile1636=) rs200569112
NM_000335.4(SCN5A):c.5334G>A (p.Thr1778=) rs41311121
NM_000335.4(SCN5A):c.5433G>A (p.Ser1811=) rs780761880
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.65C>T (p.Ala22Val) rs776925980
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994

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.