ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance for Long QT syndrome

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572 0.00012
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126 0.00004
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.5665G>A (p.Glu1889Lys) rs766875593 0.00003
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser) rs199473084 0.00001
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459

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