ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 178
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HGVS dbSNP
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133
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.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.328G>A (p.Ala110Thr) rs730880202
NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3914G>A (p.Arg1305His) rs730880207
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
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.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_001099404.1(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_001160160.1(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
NM_198056.2(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_198056.2(SCN5A):c.1256A>C (p.Gln419Pro) rs1057520358
NM_198056.2(SCN5A):c.1333C>G (p.His445Asp) rs199473112
NM_198056.2(SCN5A):c.1335C>A (p.His445Gln) rs368045716
NM_198056.2(SCN5A):c.1338G>A (p.Glu446=) rs1553704677
NM_198056.2(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113
NM_198056.2(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571
NM_198056.2(SCN5A):c.1355G>A (p.Gly452Asp) rs794728855
NM_198056.2(SCN5A):c.1373G>A (p.Arg458His) rs373692157
NM_198056.2(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_198056.2(SCN5A):c.1398G>T (p.Leu466Phe) rs776541865
NM_198056.2(SCN5A):c.1399G>T (p.Ala467Ser) rs794728856
NM_198056.2(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_198056.2(SCN5A):c.1455A>T (p.Gly485=) rs1060501139
NM_198056.2(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_198056.2(SCN5A):c.1576C>T (p.Arg526Cys) rs575883763
NM_198056.2(SCN5A):c.1577G>A (p.Arg526His) rs45627438
NM_198056.2(SCN5A):c.1579G>A (p.Gly527Arg) rs763550164
NM_198056.2(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389
NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_198056.2(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594
NM_198056.2(SCN5A):c.1756_1761delGCCCTC (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.1820G>A (p.Gly607Asp) rs757119370
NM_198056.2(SCN5A):c.1820G>T (p.Gly607Val) rs757119370
NM_198056.2(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112
NM_198056.2(SCN5A):c.1889C>T (p.Thr630Met) rs777061524
NM_198056.2(SCN5A):c.1891-5C>G rs749081972
NM_198056.2(SCN5A):c.1914C>T (p.Gly638=) rs764488677
NM_198056.2(SCN5A):c.1939G>T (p.Ala647Ser) rs753232371
NM_198056.2(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_198056.2(SCN5A):c.1990A>G (p.Ser664Gly) rs757444820
NM_198056.2(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_198056.2(SCN5A):c.2047T>C (p.Cys683Arg) rs199473144
NM_198056.2(SCN5A):c.2048G>C (p.Cys683Ser) rs794728860
NM_198056.2(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544
NM_198056.2(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_198056.2(SCN5A):c.2177G>A (p.Cys726Tyr) rs794728861
NM_198056.2(SCN5A):c.2209G>A (p.Glu737Lys) rs794728862
NM_198056.2(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582
NM_198056.2(SCN5A):c.2330T>A (p.Phe777Tyr) rs794728863
NM_198056.2(SCN5A):c.2379C>T (p.Leu793=) rs758397582
NM_198056.2(SCN5A):c.2381T>C (p.Met794Thr) rs1057520483
NM_198056.2(SCN5A):c.2398C>T (p.Arg800Cys) rs764252430
NM_198056.2(SCN5A):c.2414C>T (p.Ser805Leu) rs767947088
NM_198056.2(SCN5A):c.2420T>C (p.Leu807Pro) rs1064793344
NM_198056.2(SCN5A):c.2506G>A (p.Val836Met) rs768289937
NM_198056.2(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166
NM_198056.2(SCN5A):c.2614G>A (p.Asp872Asn) rs763396298
NM_198056.2(SCN5A):c.2618C>T (p.Ser873Leu) rs794728866
NM_198056.2(SCN5A):c.262A>G (p.Ser88Gly) rs779961972
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_198056.2(SCN5A):c.2735A>G (p.Gln912Arg) rs876661392
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.2770G>T (p.Val924Phe) rs199473177
NM_198056.2(SCN5A):c.3392C>T (p.Thr1131Ile) rs199473197
NM_198056.2(SCN5A):c.3394C>T (p.Pro1132Ser) rs750831286
NM_198056.2(SCN5A):c.3439A>G (p.Thr1147Ala) rs794728930
NM_198056.2(SCN5A):c.3467A>G (p.Asp1156Gly) rs747205537
NM_198056.2(SCN5A):c.3541G>T (p.Val1181Leu) rs794728874
NM_198056.2(SCN5A):c.3577C>T (p.Arg1193Trp) rs192379242
NM_198056.2(SCN5A):c.359T>C (p.Ile120Thr) rs794728844
NM_198056.2(SCN5A):c.3694C>T (p.Arg1232Trp) rs199473207
NM_198056.2(SCN5A):c.3695G>A (p.Arg1232Gln) rs199473206
NM_198056.2(SCN5A):c.3709G>A (p.Val1237Ile) rs794728932
NM_198056.2(SCN5A):c.3727G>A (p.Asp1243Asn) rs199473599
NM_198056.2(SCN5A):c.3751G>A (p.Val1251Met) rs199473600
NM_198056.2(SCN5A):c.3840+5G>A rs794728933
NM_198056.2(SCN5A):c.3925C>T (p.Arg1309Cys) rs886039459
NM_198056.2(SCN5A):c.393-5C>T rs368678204
NM_198056.2(SCN5A):c.3970G>A (p.Val1324Ile) rs1553695437
NM_198056.2(SCN5A):c.4018G>A (p.Val1340Ile) rs199473605
NM_198056.2(SCN5A):c.4057G>A (p.Val1353Met) rs199473233
NM_198056.2(SCN5A):c.4109A>G (p.Asp1370Gly) rs775485359
NM_198056.2(SCN5A):c.4171G>A (p.Gly1391Arg) rs780405533
NM_198056.2(SCN5A):c.421A>T (p.Ile141Phe) rs794728845
NM_198056.2(SCN5A):c.4229T>C (p.Leu1410Pro) rs794728878
NM_198056.2(SCN5A):c.4270A>T (p.Ile1424Phe) rs757843082
NM_198056.2(SCN5A):c.4296G>C (p.Arg1432Ser) rs199473246
NM_198056.2(SCN5A):c.4299G>C (p.Gly1433=) rs794728935
NM_198056.2(SCN5A):c.4306G>A (p.Glu1436Lys) rs1553694466
NM_198056.2(SCN5A):c.4389C>A (p.Asn1463Lys) rs1064795922
NM_198056.2(SCN5A):c.4396A>G (p.Ile1466Val) rs794728881
NM_198056.2(SCN5A):c.4397T>C (p.Ile1466Thr) rs794728882
NM_198056.2(SCN5A):c.4403T>C (p.Val1468Ala) rs794728883
NM_198056.2(SCN5A):c.4405A>T (p.Ile1469Phe) rs794728937
NM_198056.2(SCN5A):c.4409T>C (p.Ile1470Thr) rs794728884
NM_198056.2(SCN5A):c.4437+5G>A rs1057520531
NM_198056.2(SCN5A):c.4492A>G (p.Met1498Val) rs199473264
NM_198056.2(SCN5A):c.4497G>T (p.Lys1499Asn) rs1064793262
NM_198056.2(SCN5A):c.4571T>C (p.Ile1524Thr) rs369087645
NM_198056.2(SCN5A):c.4750C>T (p.His1584Tyr) rs1064796604
NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile) rs199473278
NM_198056.2(SCN5A):c.4927A>C (p.Ile1643Leu) rs876661015
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) rs199473292
NM_198056.2(SCN5A):c.4999G>C (p.Val1667Leu) rs199473293
NM_198056.2(SCN5A):c.5028G>A (p.Met1676Ile) rs764782158
NM_198056.2(SCN5A):c.5038G>A (p.Ala1680Thr) rs199473294
NM_198056.2(SCN5A):c.5092G>A (p.Ala1698Thr) rs199473295
NM_198056.2(SCN5A):c.5126C>T (p.Thr1709Met) rs199473297
NM_198056.2(SCN5A):c.5144G>C (p.Gly1715Ala) rs794728894
NM_198056.2(SCN5A):c.5168C>A (p.Thr1723Asn) rs199473300
NM_198056.2(SCN5A):c.5185G>A (p.Asp1729Asn) rs763880032
NM_198056.2(SCN5A):c.5221G>T (p.Asp1741Tyr) rs746418124
NM_198056.2(SCN5A):c.5239G>A (p.Val1747Met) rs199473630
NM_198056.2(SCN5A):c.5297T>A (p.Met1766Lys) rs752476527
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5329G>A (p.Val1777Met) rs199473314
NM_198056.2(SCN5A):c.5348C>G (p.Thr1783Ser) rs794728896
NM_198056.2(SCN5A):c.5360G>C (p.Ser1787Thr) rs199473316
NM_198056.2(SCN5A):c.5374G>A (p.Asp1792Asn) rs727504495
NM_198056.2(SCN5A):c.53G>A (p.Arg18Gln) rs41311087
NM_198056.2(SCN5A):c.5435C>T (p.Ser1812Leu) rs371891414
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5458G>A (p.Ala1820Thr) rs764188413
NM_198056.2(SCN5A):c.5482G>A (p.Ala1828Thr) rs774593360
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.5511C>A (p.Asn1837Lys) rs1057521229
NM_198056.2(SCN5A):c.5529_5543delGAGTGGGGACCGCAT (p.Ser1844_Ile1848del) rs794728916
NM_198056.2(SCN5A):c.5539C>T (p.Arg1847Cys) rs768246863
NM_198056.2(SCN5A):c.5592G>T (p.Glu1864Asp) rs794728899
NM_198056.2(SCN5A):c.5651C>T (p.Pro1884Leu) rs755162776
NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.569G>A (p.Arg190Gln) rs199473069
NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His) rs199473327
NM_198056.2(SCN5A):c.5755C>T (p.Arg1919Cys) rs199473328
NM_198056.2(SCN5A):c.5831G>A (p.Arg1944Gln) rs767089602
NM_198056.2(SCN5A):c.5845G>A (p.Ala1949Thr) rs199473330
NM_198056.2(SCN5A):c.5860G>A (p.Glu1954Lys) rs397517956
NM_198056.2(SCN5A):c.5885C>T (p.Pro1962Leu) rs199473638
NM_198056.2(SCN5A):c.5904C>G (p.Ile1968Met) rs199473333
NM_198056.2(SCN5A):c.5976dupG (p.Ser1993Valfs) rs1553692331
NM_198056.2(SCN5A):c.5985C>G (p.Tyr1995Ter) rs794728941
NM_198056.2(SCN5A):c.6004G>A (p.Ala2002Thr) rs771018427
NM_198056.2(SCN5A):c.612-207G>A rs748294482
NM_198056.2(SCN5A):c.612-229T>A rs765669597
NM_198056.2(SCN5A):c.612-233G>C rs1553706324
NM_198056.2(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_198056.2(SCN5A):c.655C>T (p.Arg219Cys) rs762012668
NM_198056.2(SCN5A):c.718G>A (p.Val240Met) rs199473076
NM_198056.2(SCN5A):c.724G>A (p.Ala242Thr) rs1311277481
NM_198056.2(SCN5A):c.787G>A (p.Val263Ile) rs752824646
NM_198056.2(SCN5A):c.820G>A (p.Gly274Ser) rs794728852
NM_198056.2(SCN5A):c.82A>C (p.Met28Leu) rs748805919
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198056.2(SCN5A):c.86C>T (p.Ala29Val) rs562675882
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
NM_198056.2(SCN5A):c.871A>C (p.Asn291His) rs36210420
NM_198056.2(SCN5A):c.883G>A (p.Glu295Lys) rs762283891
NM_198056.2(SCN5A):c.889G>A (p.Asp297Asn) rs794728853
NM_198056.2(SCN5A):c.903G>C (p.Trp301Cys) rs1057524769
NM_198056.2(SCN5A):c.940T>C (p.Tyr314His) rs794728925
NM_198056.2(SCN5A):c.944T>C (p.Leu315Pro) rs199473564

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