ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance for Sick sinus syndrome 1

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.*2135C>A rs45502793 0.04380
NM_000335.5(SCN5A):c.*1820C>G rs45610536 0.00458
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.*659C>T rs45446194 0.00074
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000335.5(SCN5A):c.*889C>A rs546849670 0.00063
NM_000335.5(SCN5A):c.*920G>C rs561475141 0.00063
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000335.5(SCN5A):c.*1166G>A rs947521286 0.00046
NM_000335.5(SCN5A):c.*1074C>G rs776171341 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.*160G>A rs772585696 0.00039
NM_000335.5(SCN5A):c.*1568G>C rs45503498 0.00038
NM_000335.5(SCN5A):c.*1743G>A rs45474195 0.00029
NM_000335.5(SCN5A):c.*747G>A rs763830252 0.00020
NM_000335.5(SCN5A):c.*1058G>T rs920940184 0.00014
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.*688C>T rs550747620 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000335.5(SCN5A):c.*1151G>A rs557896083 0.00007
NM_000335.5(SCN5A):c.*331T>C rs551399685 0.00007
NM_000335.5(SCN5A):c.*1932C>T rs886058437 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.*990T>C rs886058448 0.00005
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=) rs367778922 0.00005
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00004
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=) rs199473246 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.*1555C>T rs1040662890 0.00003
NM_000335.5(SCN5A):c.*663C>A rs540984871 0.00003
NM_000335.5(SCN5A):c.1800G>A (p.Val600=) rs758101066 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=) rs1419998623 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000335.5(SCN5A):c.*1060G>A rs976491159 0.00002
NM_000335.5(SCN5A):c.*1087G>A rs886058446 0.00002
NM_000335.5(SCN5A):c.*2007G>A rs45593136 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.*475T>C rs889570615 0.00001
NM_000335.5(SCN5A):c.*587C>T rs1162696914 0.00001
NM_000335.5(SCN5A):c.*662C>T rs1264714663 0.00001
NM_000335.5(SCN5A):c.-53+12C>T rs886058464 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn) rs746418124 0.00001
NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=) rs2061028836 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu) rs765885732 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000335.5(SCN5A):c.*1048G>A rs886058447
NM_000335.5(SCN5A):c.*1201C>A rs1449334566
NM_000335.5(SCN5A):c.*131G>A rs2060999631
NM_000335.5(SCN5A):c.*1802G>A rs1477171569
NM_000335.5(SCN5A):c.*1843T>G rs2060971810
NM_000335.5(SCN5A):c.*290G>A rs886058457
NM_000335.5(SCN5A):c.*486C>T rs886058455
NM_000335.5(SCN5A):c.*705C>A rs886058452
NM_000335.5(SCN5A):c.-107G>A rs886058466
NM_000335.5(SCN5A):c.-70C>T rs886058465
NM_000335.5(SCN5A):c.-80C>A rs2062869269
NM_000335.5(SCN5A):c.1368G>C (p.Val456=) rs2061985964
NM_000335.5(SCN5A):c.3503C>G (p.Thr1168Ser) rs779305181
NM_000335.5(SCN5A):c.3524G>A (p.Cys1175Tyr) rs2061472260
NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile) rs1437242831
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle) rs2061232746
NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr) rs758959053
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys) rs1226701514
NM_000335.5(SCN5A):c.4296+4G>T rs2061175433
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.5(SCN5A):c.5294T>A (p.Met1765Lys) rs752476527
NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr) rs2061021014
NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu) rs368967393
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp) rs199473068
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val) rs758704113
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg) rs199473338
NM_000335.5(SCN5A):c.656G>C (p.Arg219Pro) rs878855296

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