ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign

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Total variants: 152
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HGVS dbSNP
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
NM_001165963.4(SCN1A):c.*1025T>C rs10497275
NM_001165963.4(SCN1A):c.*1031A>T rs114522414
NM_001165963.4(SCN1A):c.*1224G>A rs77088538
NM_001165963.4(SCN1A):c.*1653C>T rs79971813
NM_001165963.4(SCN1A):c.*1693A>G rs7591522
NM_001165963.4(SCN1A):c.*172dup rs113696479
NM_001165963.4(SCN1A):c.*1795G>A rs189183531
NM_001165963.4(SCN1A):c.*1864T>A rs150155252
NM_001165963.4(SCN1A):c.*1952T>C rs184794128
NM_001165963.4(SCN1A):c.*1961C>T rs7577411
NM_001165963.4(SCN1A):c.*588A>G rs539073575
NM_001165963.4(SCN1A):c.*677G>A
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818
NM_001165963.4(SCN1A):c.3105A>G (p.Gln1035=) rs144013543
NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=) rs1204620691
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) rs1226603266
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=) rs961517010
NM_001165963.4(SCN1A):c.3249A>C (p.Thr1083=) rs1042252202
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445
NM_001165963.4(SCN1A):c.3426A>G (p.Lys1142=) rs753202524
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=) rs727504137
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=) rs761878186
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=) rs769635347
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=) rs1057524122
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685
NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=) rs150638891
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) rs377326177
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=) rs376579606
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=) rs200745708
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=) rs771494149
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=) rs998325208
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) rs761168283
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) rs1176622466
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4401C>A (p.Ile1467=)
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=) rs750997506
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=) rs1057521371
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) rs1559110682
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=) rs762836573
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808
NM_001165963.4(SCN1A):c.4870C>T (p.Leu1624=) rs1553520513
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) rs369650500
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.4980C>T (p.Leu1660=) rs1057521307
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=)
NM_001165963.4(SCN1A):c.5026C>T (p.Leu1676=) rs1553520391
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=) rs777044331
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5379T>A (p.Thr1793=) rs1553520152
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn) rs1573944260
NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=) rs748090629
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747
NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly) rs1559100042
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=) rs554861427
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=) rs767698089
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) rs754371368
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112
NM_006920.6(SCN1A):c.3397-7C>A rs975085305
NM_006920.6(SCN1A):c.3518-3C>T rs1225446966
NM_006920.6(SCN1A):c.3519C>T (p.Gly1173=) rs1574061760
NM_006920.6(SCN1A):c.3636C>T (p.Phe1212=) rs1574060392
NM_006920.6(SCN1A):c.3672+12T>G rs147032678
NM_006920.6(SCN1A):c.3672+17A>G rs1553532428
NM_006920.6(SCN1A):c.3673-146C>G rs115294408
NM_006920.6(SCN1A):c.3673-20G>A rs187973818
NM_006920.6(SCN1A):c.3846+9C>T rs570092799
NM_006920.6(SCN1A):c.3969+8A>G rs762574934
NM_006920.6(SCN1A):c.3970-14C>T rs1241008825
NM_006920.6(SCN1A):c.3970-15C>T rs1057521559
NM_006920.6(SCN1A):c.3970-5A>G rs1574007160
NM_006920.6(SCN1A):c.3970-8T>C rs1553525411
NM_006920.6(SCN1A):c.4113T>C (p.Gly1371=) rs1574005667
NM_006920.6(SCN1A):c.4137G>C (p.Val1379=) rs1474333400
NM_006920.6(SCN1A):c.4251+14A>G rs370074740
NM_006920.6(SCN1A):c.4251+19C>A rs1383995139
NM_006920.6(SCN1A):c.4305+12T>C rs761062999
NM_006920.6(SCN1A):c.4305+17dup rs1064795145
NM_006920.6(SCN1A):c.4306-5G>A rs1057522587
NM_006920.6(SCN1A):c.4326T>C (p.Tyr1442=) rs1573984787
NM_006920.6(SCN1A):c.4443+6T>C rs1057523807
NM_006920.6(SCN1A):c.4444-11C>A rs775315152
NM_006920.6(SCN1A):c.4444-6C>G rs1470740998
NM_006920.6(SCN1A):c.4548+124C>G rs13398882
NM_006920.6(SCN1A):c.4548+12C>T rs886055042
NM_006920.6(SCN1A):c.4549-12A>G rs752455718
NM_006920.6(SCN1A):c.4549-27G>A rs113927395
NM_006920.6(SCN1A):c.4549-4A>C rs1057521695
NM_006920.6(SCN1A):c.4549-4A>G rs1057521695
NM_006920.6(SCN1A):c.4887T>C (p.Leu1629=) rs1573952959
NM_006920.6(SCN1A):c.4896T>C (p.Ile1632=) rs1573952870
NM_006920.6(SCN1A):c.4974G>A (p.Ala1658=) rs750366817
NM_006920.6(SCN1A):c.5250T>G (p.Val1750=) rs1573948237
NM_006920.6(SCN1A):c.5316G>C (p.Ala1772=) rs369500022
NM_006920.6(SCN1A):c.5346T>C (p.Thr1782=) rs1553520152
NM_006920.6(SCN1A):c.5397G>A (p.Glu1799=) rs765676433
NM_006920.6(SCN1A):c.5568C>T (p.Ile1856=) rs1573944589
NM_006920.6(SCN1A):c.5622A>C (p.Leu1874=) rs746651472
NM_006920.6(SCN1A):c.5668G>A (p.Val1890Ile)
NM_006920.6(SCN1A):c.5754C>T (p.His1918=) rs371253263
NM_006920.6(SCN1A):c.5937A>C (p.Thr1979=) rs1295648726
NM_006920.6(SCN1A):c.5991G>A (p.Gly1997=) rs370049341

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