ClinVar Miner

List of variants in gene SCN5A reported by CSER_CC_NCGL; University of Washington Medical Center

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_198056.2(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_198056.2(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_198056.2(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572
NM_198056.2(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126
NM_198056.2(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_198056.2(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_198056.2(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_198056.2(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133
NM_198056.2(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_198056.2(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_198056.2(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_198056.2(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_198056.2(SCN5A):c.3835G>A (p.Val1279Ile) rs199473341
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.3922C>T (p.Leu1308Phe) rs41313031
NM_198056.2(SCN5A):c.414G>A (p.Met138Ile) rs199473060
NM_198056.2(SCN5A):c.4594G>A (p.Val1532Ile) rs199473618
NM_198056.2(SCN5A):c.5336C>T (p.Thr1779Met) rs199473634
NM_198056.2(SCN5A):c.5360G>A (p.Ser1787Asn) rs199473316
NM_198056.2(SCN5A):c.5477G>A (p.Arg1826His) rs137854610
NM_198056.2(SCN5A):c.5507T>C (p.Ile1836Thr) rs45563942
NM_198056.2(SCN5A):c.5668G>A (p.Glu1890Lys) rs766875593
NM_198056.2(SCN5A):c.5689C>T (p.Arg1897Trp) rs45465995
NM_198056.2(SCN5A):c.5711C>T (p.Ser1904Leu) rs150264233
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.5873G>A (p.Arg1958Gln) rs199473331
NM_198056.2(SCN5A):c.5903T>G (p.Ile1968Ser) rs199473639
NM_198056.2(SCN5A):c.5961C>A (p.Asn1987Lys) rs199473335
NM_198056.2(SCN5A):c.612-2A>G rs370438420
NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_198056.2(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_198056.2(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_198056.2(SCN5A):c.865G>A (p.Gly289Ser) rs199473084

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