ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by GeneDx

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Total variants: 78
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HGVS dbSNP
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.4(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105
NM_000335.4(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.4(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573
NM_000335.4(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_000335.4(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.4(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.273+1G>A rs1057524447
NM_000335.4(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_000335.4(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.4(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.4(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405
NM_000335.4(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3626T>C (p.Phe1209Ser) rs794728875
NM_000335.4(SCN5A):c.3647T>G (p.Leu1216Arg) rs794728876
NM_000335.4(SCN5A):c.3837+1G>A rs1366120635
NM_000335.4(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858
NM_000335.4(SCN5A):c.393-2A>G rs1312714061
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3992C>G (p.Pro1331Arg) rs199473225
NM_000335.4(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.4(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133
NM_000335.4(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.4(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.4(SCN5A):c.4242+2T>A rs794728880
NM_000335.4(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.4(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.4(SCN5A):c.4336T>C (p.Tyr1446His) rs1064793326
NM_000335.4(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.4(SCN5A):c.4414T>C (p.Phe1472Leu) rs1057523393
NM_000335.4(SCN5A):c.4421A>T (p.Gln1474Leu) rs794728885
NM_000335.4(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.4(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.4(SCN5A):c.483-1G>A rs794728846
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888
NM_000335.4(SCN5A):c.4910G>C (p.Arg1637Pro) rs374557801
NM_000335.4(SCN5A):c.4948A>G (p.Met1650Val) rs794728889
NM_000335.4(SCN5A):c.5023A>G (p.Met1675Val) rs794728890
NM_000335.4(SCN5A):c.5024T>C (p.Met1675Thr) rs750013499
NM_000335.4(SCN5A):c.5069T>C (p.Met1690Thr) rs794728891
NM_000335.4(SCN5A):c.5080C>T (p.Gln1694Ter) rs1085307710
NM_000335.4(SCN5A):c.5105G>A (p.Cys1702Tyr) rs794728892
NM_000335.4(SCN5A):c.5137G>A (p.Asp1713Asn) rs794728893
NM_000335.4(SCN5A):c.5138A>G (p.Asp1713Gly) rs199473628
NM_000335.4(SCN5A):c.5187del (p.Thr1730fs) rs1085307527
NM_000335.4(SCN5A):c.5228G>T (p.Ser1743Ile) rs794728895
NM_000335.4(SCN5A):c.5282del (p.Ile1761fs) rs886039455
NM_000335.4(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.4(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897
NM_000335.4(SCN5A):c.539G>T (p.Gly180Val) rs794728847
NM_000335.4(SCN5A):c.5402A>G (p.Asp1801Gly) rs199473318
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.5473C>T (p.Arg1825Cys) rs199473635
NM_000335.4(SCN5A):c.5527_5530dup (p.Gly1844fs) rs1064794424
NM_000335.4(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.4(SCN5A):c.5623G>A (p.Glu1875Lys) rs794728900
NM_000335.4(SCN5A):c.5737A>G (p.Arg1913Gly) rs766751878
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.4(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940
NM_000335.4(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5932A>T (p.Ser1978Cys) rs794728903
NM_000335.4(SCN5A):c.611C>A (p.Ala204Glu) rs199473559
NM_000335.4(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_000335.4(SCN5A):c.664C>G (p.Arg222Gly) rs794728849
NM_000335.4(SCN5A):c.680T>C (p.Leu227Pro) rs760011764
NM_000335.4(SCN5A):c.739G>C (p.Val247Leu) rs199473078

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