ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_198056.2(SCN5A):c.1338+2T>A rs786204839
NM_198056.2(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_198056.2(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) rs794728912
NM_198056.2(SCN5A):c.3812G>A (p.Trp1271Ter) rs1553696647
NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) rs137854618
NM_198056.2(SCN5A):c.4384delC (p.Leu1462Terfs) rs1553694426
NM_198056.2(SCN5A):c.4423delC (p.Gln1475Asnfs) rs886039018
NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) rs137854613
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) rs199473284
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) rs199473311
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.611+1G>A rs794728843

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