ClinVar Miner

List of variants in gene SCN5A reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_198056.2(SCN5A):c.1017C>T (p.Tyr339=) rs17215493
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1577G>A (p.Arg526His) rs45627438
NM_198056.2(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.3511+10C>T rs41258454
NM_198056.2(SCN5A):c.354C>T (p.His118=) rs45533640
NM_198056.2(SCN5A):c.393-5C>T rs368678204
NM_198056.2(SCN5A):c.4218G>A (p.Gly1406=) rs41311123
NM_198056.2(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750
NM_198056.2(SCN5A):c.4857G>A (p.Pro1619=) rs368031564
NM_198056.2(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5860G>A (p.Glu1954Lys) rs397517956
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_198056.2(SCN5A):c.954C>T (p.Asn318=) rs372623225

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