ClinVar Miner

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

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000335.4(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.4(SCN5A):c.2023+1G>A rs1553703211
NM_000335.4(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.4(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.4(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.4(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.4(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.4(SCN5A):c.4874G>A (p.Arg1625His) rs199473283
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.612-233G>C rs1553706324
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072

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