ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 6
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NM_000335.4(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.4(SCN5A):c.3509-1G>C rs1553698563
NM_000335.4(SCN5A):c.3681C>G (p.Tyr1227Ter) rs1559738598
NM_000335.4(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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