ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for not specified

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Total variants: 108
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HGVS dbSNP
NM_001165963.1(SCN1A):c.*20A>G rs565537621
NM_001165963.1(SCN1A):c.3105A>G (p.Gln1035=) rs144013543
NM_001165963.1(SCN1A):c.3165C>T (p.Asn1055=) rs797045939
NM_001165963.1(SCN1A):c.3168_3170delCAA (p.Asn1056del) rs796053069
NM_001165963.1(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.1(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645
NM_001165963.1(SCN1A):c.3330T>C (p.Ser1110=) rs587781145
NM_001165963.1(SCN1A):c.3430-7C>A rs975085305
NM_001165963.1(SCN1A):c.3450C>T (p.Ser1150=) rs727504137
NM_001165963.1(SCN1A):c.3480C>A (p.Gly1160=) rs369594817
NM_001165963.1(SCN1A):c.3480C>T (p.Gly1160=) rs369594817
NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.1(SCN1A):c.3498G>A (p.Gln1166=) rs145410000
NM_001165963.1(SCN1A):c.3525T>G (p.Leu1175=) rs1057524122
NM_001165963.1(SCN1A):c.3550+11G>T rs202142409
NM_001165963.1(SCN1A):c.3573T>C (p.Cys1191=) rs750943685
NM_001165963.1(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.1(SCN1A):c.3630G>A (p.Thr1210=) rs377326177
NM_001165963.1(SCN1A):c.3705+10delA rs570862962
NM_001165963.1(SCN1A):c.3705+12T>G rs147032678
NM_001165963.1(SCN1A):c.3717T>C (p.Asp1239=) rs376579606
NM_001165963.1(SCN1A):c.3750G>T (p.Thr1250=) rs771494149
NM_001165963.1(SCN1A):c.3804T>C (p.Leu1268=) rs143980709
NM_001165963.1(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.1(SCN1A):c.3888G>A (p.Leu1296=) rs998325208
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.1(SCN1A):c.4003-15C>T rs1057521559
NM_001165963.1(SCN1A):c.4167C>T (p.Asp1389=) rs376118833
NM_001165963.1(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915
NM_001165963.1(SCN1A):c.4338+12T>C rs761062999
NM_001165963.1(SCN1A):c.4338+18dupT rs1064795145
NM_001165963.1(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.1(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174
NM_001165963.1(SCN1A):c.4386C>T (p.Tyr1462=) rs587781146
NM_001165963.1(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.1(SCN1A):c.4476+6T>C rs1057523807
NM_001165963.1(SCN1A):c.4506A>G (p.Glu1502=) rs587781147
NM_001165963.1(SCN1A):c.4521C>T (p.Tyr1507=) rs750997506
NM_001165963.1(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.1(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.1(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.1(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184
NM_001165963.1(SCN1A):c.4581+12C>T rs886055042
NM_001165963.1(SCN1A):c.4582-12A>G rs752455718
NM_001165963.1(SCN1A):c.4582-4A>C rs1057521695
NM_001165963.1(SCN1A):c.4632C>T (p.Asp1544=) rs1057521371
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4791T>C (p.His1597=) rs141051370
NM_001165963.1(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.1(SCN1A):c.4923T>C (p.Ala1641=) rs369650500
NM_001165963.1(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.1(SCN1A):c.4980C>T (p.Leu1660=) rs1057521307
NM_001165963.1(SCN1A):c.5127C>A (p.Thr1709=) rs777044331
NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.1(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.1(SCN1A):c.5346C>T (p.Ile1782=) rs121918763
NM_001165963.1(SCN1A):c.5356C>T (p.Leu1786=) rs587781148
NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.1(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5739A>G (p.Lys1913=) rs554861427
NM_001165963.1(SCN1A):c.5763T>C (p.Ile1921=) rs767698089
NM_001165963.1(SCN1A):c.5766T>C (p.Ile1922=) rs587781149
NM_001165963.1(SCN1A):c.5770_5790del21 (p.Arg1924_Leu1930del) rs796053088
NM_001165963.1(SCN1A):c.5823G>A (p.Thr1941=) rs754371368
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.1(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952
NM_001165963.1(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.1(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112
NM_001165963.2(SCN1A):c.3111C>A (p.Ser1037=) rs1204620691
NM_001165963.2(SCN1A):c.3246T>C (p.Thr1082=) rs961517010
NM_001165963.2(SCN1A):c.3249A>C (p.Thr1083=) rs1042252202
NM_001165963.2(SCN1A):c.3387G>A (p.Thr1129=) rs375953445
NM_001165963.2(SCN1A):c.3477C>T (p.Ile1159=) rs761878186
NM_001165963.2(SCN1A):c.3576T>C (p.Cys1192=) rs150638891
NM_001165963.2(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.2(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370
NM_001165963.2(SCN1A):c.3705+17A>G rs1553532428
NM_001165963.2(SCN1A):c.3706-20G>A rs187973818
NM_001165963.2(SCN1A):c.3741G>A (p.Thr1247=) rs200745708
NM_001165963.2(SCN1A):c.3968C>T (p.Pro1323Leu)
NM_001165963.2(SCN1A):c.4002+6A>G rs1553529408
NM_001165963.2(SCN1A):c.4003-8T>C rs1553525411
NM_001165963.2(SCN1A):c.4284+19C>A rs1383995139
NM_001165963.2(SCN1A):c.4477-11C>A rs775315152
NM_001165963.2(SCN1A):c.4582-4A>G rs1057521695
NM_001165963.2(SCN1A):c.4853-3dup rs1553520532
NM_001165963.2(SCN1A):c.4870C>T (p.Leu1624=) rs1553520513
NM_001165963.2(SCN1A):c.4905C>T (p.Phe1635=) rs774858072
NM_001165963.2(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.2(SCN1A):c.5026C>T (p.Leu1676=) rs1553520391
NM_001165963.2(SCN1A):c.5379T>A (p.Thr1793=) rs1553520152
NM_001165963.2(SCN1A):c.5513C>G (p.Pro1838Arg) rs1553520084
NM_001165963.2(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001202435.1(SCN1A):c.4284+14A>G rs370074740
NM_006920.4(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.3892C>T (p.Leu1298Phe) rs121918801
NM_006920.4(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.4(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.4(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956

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