ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 12
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HGVS dbSNP
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter)
NM_000335.4(SCN5A):c.393-1C>T rs759235726
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3960+1G>A rs483353016
NM_000335.4(SCN5A):c.4242+1G>C rs794728879
NM_000335.4(SCN5A):c.483-1G>A rs794728846
NM_000335.4(SCN5A):c.704-2A>G rs1553705586
NM_198056.2(SCN5A):c.4246-2A>G
NM_198056.2(SCN5A):c.535C>T

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