ClinVar Miner

List of variants in gene SCN5A reported by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Total variants: 34
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HGVS dbSNP
NM_000335.4(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1298G>A (p.Arg433His) rs879035421
NM_000335.4(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.4(SCN5A):c.2213A>C (p.His738Pro) rs1135401948
NM_000335.4(SCN5A):c.2437-7T>C
NM_000335.4(SCN5A):c.2643G>T (p.Met881Ile) rs1559756973
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.422T>A (p.Ile141Asn) rs772186966
NM_000335.4(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.4(SCN5A):c.435C>A (p.Cys145Ter)
NM_000335.4(SCN5A):c.4390T>C (p.Phe1464Leu) rs1559728884
NM_000335.4(SCN5A):c.4460C>A (p.Thr1487Lys)
NM_000335.4(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.4(SCN5A):c.4502G>A (p.Gly1501Asp) rs1230010586
NM_000335.4(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.4(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.4(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.880G>A (p.Val294Met) rs199473086

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