ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_001099404.1(SCN5A):c.5623_5625dup (p.Met1875_Glu1876insMet) rs1474459822
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_198056.2(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105
NM_198056.2(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_198056.2(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_198056.2(SCN5A):c.1428_1431delCAAG (p.Ser476Argfs) rs794728906
NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573
NM_198056.2(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_198056.2(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_198056.2(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_198056.2(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_198056.2(SCN5A):c.2103delG (p.Leu702Cysfs) rs794728911
NM_198056.2(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864
NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) rs794728912
NM_198056.2(SCN5A):c.273+1G>A rs1057524447
NM_198056.2(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_198056.2(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_198056.2(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_198056.2(SCN5A):c.3404G>T (p.Ser1135Ile) rs557957405
NM_198056.2(SCN5A):c.3413A>C (p.Glu1138Ala) rs199473198
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3629T>C (p.Phe1210Ser) rs794728875
NM_198056.2(SCN5A):c.3650T>G (p.Leu1217Arg) rs794728876
NM_198056.2(SCN5A):c.3840+1G>A rs1366120635
NM_198056.2(SCN5A):c.3908G>A (p.Arg1303Gln) rs977717858
NM_198056.2(SCN5A):c.393-2A>G rs1312714061
NM_198056.2(SCN5A):c.3946C>T (p.Arg1316Ter) rs1553695764
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.3995C>G (p.Pro1332Arg) rs199473225
NM_198056.2(SCN5A):c.3995_3999delCGTCC (p.Pro1332Hisfs) rs1553695398
NM_198056.2(SCN5A):c.4070C>T (p.Ala1357Val) rs370588133
NM_198056.2(SCN5A):c.4147C>T (p.Gln1383Ter) rs1553695282
NM_198056.2(SCN5A):c.4194delG (p.Val1400Serfs) rs1064796233
NM_198056.2(SCN5A):c.4245+2T>A rs794728880
NM_198056.2(SCN5A):c.4282G>T (p.Ala1428Ser) rs200034939
NM_198056.2(SCN5A):c.4338G>A (p.Met1446Ile) rs794728936
NM_198056.2(SCN5A):c.4339T>C (p.Tyr1447His) rs1064793326
NM_198056.2(SCN5A):c.4346A>G (p.Tyr1449Cys) rs199473613
NM_198056.2(SCN5A):c.4417T>C (p.Phe1473Leu) rs1057523393
NM_198056.2(SCN5A):c.4424A>T (p.Gln1475Leu) rs794728885
NM_198056.2(SCN5A):c.4484A>C (p.Tyr1495Ser) rs199473262
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4748G>A (p.Arg1583His) rs199473621
NM_198056.2(SCN5A):c.483-1G>A rs794728846
NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4870G>A (p.Val1624Ile) rs794728888
NM_198056.2(SCN5A):c.4913G>C (p.Arg1638Pro) rs374557801
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.4951A>G (p.Met1651Val) rs794728889
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.5026A>G (p.Met1676Val) rs794728890
NM_198056.2(SCN5A):c.5027T>C (p.Met1676Thr) rs750013499
NM_198056.2(SCN5A):c.5072T>C (p.Met1691Thr) rs794728891
NM_198056.2(SCN5A):c.5083C>T (p.Gln1695Ter) rs1085307710
NM_198056.2(SCN5A):c.5108G>A (p.Cys1703Tyr) rs794728892
NM_198056.2(SCN5A):c.5140G>A (p.Asp1714Asn) rs794728893
NM_198056.2(SCN5A):c.5141A>G (p.Asp1714Gly) rs199473628
NM_198056.2(SCN5A):c.5190delC (p.Thr1731Leufs) rs1085307527
NM_198056.2(SCN5A):c.5231G>T (p.Ser1744Ile) rs794728895
NM_198056.2(SCN5A):c.5285delT (p.Ile1762Thrfs) rs886039455
NM_198056.2(SCN5A):c.5320A>T (p.Asn1774Tyr) rs199473633
NM_198056.2(SCN5A):c.5378T>A (p.Met1793Lys) rs794728897
NM_198056.2(SCN5A):c.539G>T (p.Gly180Val) rs794728847
NM_198056.2(SCN5A):c.5405A>G (p.Asp1802Gly) rs199473318
NM_198056.2(SCN5A):c.5461_5462delCT (p.Leu1821Valfs) rs1553692660
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924
NM_198056.2(SCN5A):c.5476C>T (p.Arg1826Cys) rs199473635
NM_198056.2(SCN5A):c.5533_5534insAGTG (p.Gly1845Glufs) rs1064794424
NM_198056.2(SCN5A):c.5624T>C (p.Met1875Thr) rs199473324
NM_198056.2(SCN5A):c.5626G>A (p.Glu1876Lys) rs794728900
NM_198056.2(SCN5A):c.5740A>G (p.Arg1914Gly) rs766751878
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.5825_5826delCT (p.Pro1942Argfs) rs1553692416
NM_198056.2(SCN5A):c.5830C>T (p.Arg1944Ter) rs794728940
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198056.2(SCN5A):c.5935A>T (p.Ser1979Cys) rs794728903
NM_198056.2(SCN5A):c.5938G>T (p.Val1980Phe) rs772258197
NM_198056.2(SCN5A):c.611C>A (p.Ala204Glu) rs199473559
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_198056.2(SCN5A):c.664C>G (p.Arg222Gly) rs794728849
NM_198056.2(SCN5A):c.680T>C (p.Leu227Pro) rs760011764
NM_198056.2(SCN5A):c.739G>C (p.Val247Leu) rs199473078
Single allele rs1553699607

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