ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Long QT syndrome 1

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Total variants: 3
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HGVS dbSNP
NM_000335.4(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.4(SCN5A):c.3509-1G>C rs1553698563
NM_000335.4(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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