ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Cardiovascular phenotype

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Total variants: 19
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HGVS dbSNP
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_198056.2(SCN5A):c.2023+1G>A rs1553703211
NM_198056.2(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_198056.2(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.4140_4142delCAA (p.Asn1380del) rs794728922
NM_198056.2(SCN5A):c.4321G>C (p.Glu1441Gln) rs199473249
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) rs754221948
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924

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