ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys) rs878855292 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.1230del (p.Val411fs)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter)
NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs)
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter)
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2520del (p.Asn841fs)
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2533dup (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3458del (p.Ile1153fs)
NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs) rs2125840793
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.5(SCN5A):c.4420del (p.Gln1474fs) rs886039018
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.576del (p.Trp193fs) rs2062303387
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136

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