ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by Blueprint Genetics,

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Gene type:
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Total variants: 7
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NM_001099404.1(SCN5A):c.1252G>T (p.Glu418Ter) rs869025519
NM_001099404.1(SCN5A):c.4132G>A (p.Val1378Met) rs748312802
NM_198056.2(SCN5A):c.2176_2177dupTG (p.Ile727Alafs) rs869025523
NM_198056.2(SCN5A):c.4477_4479delAAG (p.Lys1493del) rs869025522
NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) rs777689378

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