ClinVar Miner

List of variants in gene SCN5A studied for Long QT syndrome

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Gene type:
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Total variants: 128
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HGVS dbSNP
NM_000335.4(SCN5A):c.*1048G>A rs886058447
NM_000335.4(SCN5A):c.*1074C>G rs776171341
NM_000335.4(SCN5A):c.*1087G>A rs886058446
NM_000335.4(SCN5A):c.*1164G>T rs41315489
NM_000335.4(SCN5A):c.*1165C>T rs41313017
NM_000335.4(SCN5A):c.*123A>G rs7429945
NM_000335.4(SCN5A):c.*1390A>G rs41310753
NM_000335.4(SCN5A):c.*1443C>A rs886058445
NM_000335.4(SCN5A):c.*1453dup rs397763929
NM_000335.4(SCN5A):c.*1496T>G rs41313015
NM_000335.4(SCN5A):c.*1537T>C rs41315485
NM_000335.4(SCN5A):c.*1568G>C rs45503498
NM_000335.4(SCN5A):c.*159C>T rs41313019
NM_000335.4(SCN5A):c.*1602G>T rs886058444
NM_000335.4(SCN5A):c.*160G>A rs772585696
NM_000335.4(SCN5A):c.*1673C>T rs886058443
NM_000335.4(SCN5A):c.*1691G>T rs886058442
NM_000335.4(SCN5A):c.*1701G>T rs886058441
NM_000335.4(SCN5A):c.*1705C>T rs886058440
NM_000335.4(SCN5A):c.*1731G>C rs569249327
NM_000335.4(SCN5A):c.*1744C>G rs886058439
NM_000335.4(SCN5A):c.*1836A>T rs886058438
NM_000335.4(SCN5A):c.*1932C>T rs886058437
NM_000335.4(SCN5A):c.*1943C>A rs569552176
NM_000335.4(SCN5A):c.*1969C>T rs190416544
NM_000335.4(SCN5A):c.*204T>C rs147795595
NM_000335.4(SCN5A):c.*2135C>A rs45502793
NM_000335.4(SCN5A):c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG rs45592631
NM_000335.4(SCN5A):c.*2149G>A rs114517792
NM_000335.4(SCN5A):c.*290G>A rs886058457
NM_000335.4(SCN5A):c.*296G>A rs886058456
NM_000335.4(SCN5A):c.*331T>C rs551399685
NM_000335.4(SCN5A):c.*382T>C rs45459402
NM_000335.4(SCN5A):c.*486C>T rs886058455
NM_000335.4(SCN5A):c.*516G>T rs886058454
NM_000335.4(SCN5A):c.*634C>A rs886058453
NM_000335.4(SCN5A):c.*663C>A rs540984871
NM_000335.4(SCN5A):c.*677G>A rs45458203
NM_000335.4(SCN5A):c.*6G>T rs776980213
NM_000335.4(SCN5A):c.*705C>A rs886058452
NM_000335.4(SCN5A):c.*725C>A rs886058451
NM_000335.4(SCN5A):c.*73C>A rs886058458
NM_000335.4(SCN5A):c.*747G>A rs763830252
NM_000335.4(SCN5A):c.*753C>T rs41310757
NM_000335.4(SCN5A):c.*889C>A rs546849670
NM_000335.4(SCN5A):c.*920G>C rs561475141
NM_000335.4(SCN5A):c.*945C>A rs886058450
NM_000335.4(SCN5A):c.*962T>A rs4073797
NM_000335.4(SCN5A):c.*963C>T rs4073796
NM_000335.4(SCN5A):c.*980C>A rs886058449
NM_000335.4(SCN5A):c.*990T>C rs886058448
NM_000335.4(SCN5A):c.-107G>A rs886058466
NM_000335.4(SCN5A):c.-53+12C>T rs886058464
NM_000335.4(SCN5A):c.-70C>T rs886058465
NM_000335.4(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_000335.4(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.4(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.4(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.4(SCN5A):c.1141-3C>A rs41312433
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_000335.4(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572
NM_000335.4(SCN5A):c.1491T>G (p.Ser497=) rs761505485
NM_000335.4(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.4(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.4(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_000335.4(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000335.4(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.4(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126
NM_000335.4(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.4(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.4(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133
NM_000335.4(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.4(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136
NM_000335.4(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.4(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_000335.4(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_000335.4(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_000335.4(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_000335.4(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_000335.4(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.2437-5C>A rs72549411
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.3388-7T>C rs41310769
NM_000335.4(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369
NM_000335.4(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389
NM_000335.4(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.4(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.4(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.4(SCN5A):c.4434+13C>T rs148598985
NM_000335.4(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618
NM_000335.4(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.4(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.4(SCN5A):c.4821C>T (p.Leu1607=) rs45437099
NM_000335.4(SCN5A):c.4824G>A (p.Ser1608=) rs886058460
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.4(SCN5A):c.5283C>T (p.Ile1761=) rs375323548
NM_000335.4(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5451C>T (p.Ala1817=) rs370114378
NM_000335.4(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619
NM_000335.4(SCN5A):c.5454T>C (p.Asp1818=) rs1805126
NM_000335.4(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320
NM_000335.4(SCN5A):c.5604C>T (p.Asp1868=) rs560476223
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.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.4(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670
NM_000335.4(SCN5A):c.6000C>T (p.Leu2000=) rs538707712
NM_000335.4(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000335.4(SCN5A):c.687T>C (p.Thr229=) rs770390440
NM_000335.4(SCN5A):c.787G>A (p.Val263Ile) rs752824646
NM_000335.4(SCN5A):c.865G>A (p.Gly289Ser) rs199473084
NM_000335.4(SCN5A):c.87A>G (p.Ala29=) rs6599230

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