ClinVar Miner

List of variants in gene SCN5A reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Total variants: 31
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HGVS dbSNP
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.1141-3C>A rs41312433
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.4(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.4(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.4(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.1984G>T (p.Ala662Ser) rs371313714
NM_000335.4(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_000335.4(SCN5A):c.2657A>C (p.His886Pro) rs199473169
NM_000335.4(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.4(SCN5A):c.4165A>G (p.Thr1389Ala) rs1553695261
NM_000335.4(SCN5A):c.495C>T (p.Thr165=) rs62242804
NM_000335.4(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.4(SCN5A):c.5263_5265ATC[2] (p.Ile1757del)
NM_000335.4(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.53G>A (p.Arg18Gln) rs41311087
NM_000335.4(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320
NM_000335.4(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5894C>G (p.Ser1965Cys)
NM_000335.4(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.4(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037

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