ClinVar Miner

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

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Gene type:
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Total variants: 15
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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

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