ClinVar Miner

List of variants in gene SCN5A studied for Long QT syndrome

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Total variants: 64
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HGVS dbSNP
NM_000335.4(SCN5A):c.*1453dup rs397763929
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572
NM_000335.4(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126
NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618
NM_000335.4(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634
NM_000335.4(SCN5A):c.5665G>A (p.Glu1889Lys) rs766875593
NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.865G>A (p.Gly289Ser) rs199473084
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_001160160.2(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
NM_198056.2(SCN5A):c.*1443C>A rs886058445
NM_198056.2(SCN5A):c.*1602G>T rs886058444
NM_198056.2(SCN5A):c.*1673C>T rs886058443
NM_198056.2(SCN5A):c.*1691G>T rs886058442
NM_198056.2(SCN5A):c.*1701G>T rs886058441
NM_198056.2(SCN5A):c.*1705C>T rs886058440
NM_198056.2(SCN5A):c.*1731G>C rs569249327
NM_198056.2(SCN5A):c.*1744C>G rs886058439
NM_198056.2(SCN5A):c.*1836A>T rs886058438
NM_198056.2(SCN5A):c.*1943C>A rs569552176
NM_198056.2(SCN5A):c.*1969C>T rs190416544
NM_198056.2(SCN5A):c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG rs45592631
NM_198056.2(SCN5A):c.*2149G>A rs114517792
NM_198056.2(SCN5A):c.*296G>A rs886058456
NM_198056.2(SCN5A):c.*516G>T rs886058454
NM_198056.2(SCN5A):c.*634C>A rs886058453
NM_198056.2(SCN5A):c.*6G>T rs776980213
NM_198056.2(SCN5A):c.*725C>A rs886058451
NM_198056.2(SCN5A):c.*73C>A rs886058458
NM_198056.2(SCN5A):c.*945C>A rs886058450
NM_198056.2(SCN5A):c.*980C>A rs886058449
NM_198056.2(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_198056.2(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_198056.2(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_198056.2(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136
NM_198056.2(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_198056.2(SCN5A):c.4267G>A (p.Asp1423Asn) rs746291609
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4594G>T (p.Val1532Phe) rs199473618
NM_198056.2(SCN5A):c.4850_4852del rs749697698
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5945G>T (p.Arg1982Ile) rs774432823
NM_198056.2(SCN5A):c.6033C>A (p.Asp2011Glu) rs886058459
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440

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