ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance for not specified

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Gene type:
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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.3837+8T>C rs372405305 0.00027
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_000335.5(SCN5A):c.1984G>T (p.Ala662Ser) rs371313714 0.00012
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val) rs765699394 0.00009
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.5035G>A (p.Ala1679Thr) rs199473294 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.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544 0.00005
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile) rs768055977 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met) rs199473280 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.482+10T>G rs762598150 0.00003
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn) rs727504495 0.00003
NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr) rs774593360 0.00003
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro) rs765713843 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.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.1018C>T (p.Arg340Trp) rs199473094 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105 0.00001
NM_000335.5(SCN5A):c.1338+18C>T rs761031894 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp) rs199473139 0.00001
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys) rs1438675647 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile) rs772681454 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.3464A>G (p.Asp1155Gly) rs747205537 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=) rs17221875 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.5017T>G (p.Phe1673Val) rs1347295641 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300 0.00001
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met) rs199473630 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) rs369058100 0.00001
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu) rs757114635 0.00001
NM_000335.5(SCN5A):c.610G>A (p.Ala204Thr) rs1378168869 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.703+11G>A rs779138392 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln) rs587781160
NM_000335.5(SCN5A):c.1073T>C (p.Phe358Ser) rs876661391
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.5(SCN5A):c.1366G>C (p.Val456Leu)
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg) rs1553704001
NM_000335.5(SCN5A):c.1862C>A (p.Pro621His)
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.5(SCN5A):c.2403G>C (p.Met801Ile) rs1559758625
NM_000335.5(SCN5A):c.2647G>A (p.Asp883Asn) rs727505351
NM_000335.5(SCN5A):c.268C>A (p.Gln90Lys) rs794728839
NM_000335.5(SCN5A):c.2735A>G (p.Gln912Arg) rs876661392
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.301A>C (p.Thr101Pro) rs2062506882
NM_000335.5(SCN5A):c.3580C>T (p.Arg1194Cys) rs864622440
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys) rs1403211358
NM_000335.5(SCN5A):c.3944G>C (p.Arg1315Pro) rs765907469
NM_000335.5(SCN5A):c.4296+6T>A rs794728934
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr) rs199473251
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.5(SCN5A):c.4412A>T (p.Asn1471Ile) rs199473255
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.5(SCN5A):c.4499T>C (p.Leu1500Pro) rs1060501132
NM_000335.5(SCN5A):c.4832T>C (p.Ile1611Thr) rs1553693063
NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr) rs397517955
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn) rs2061011231
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.592T>C (p.Phe198Leu)
NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.922C>G (p.Leu308Val) rs2062079664
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597

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