ClinVar Miner

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

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.3550+11G>T rs202142409 0.00194
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.*20A>G rs565537621 0.00041
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.3706-20G>A rs187973818 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915 0.00007
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145 0.00005
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.4003-15C>T rs1057521559 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) rs754371368 0.00004
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.4582-12A>G rs752455718 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) rs797045939 0.00002
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) rs895560193 0.00002
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=) rs727504137 0.00002
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=) rs961517010 0.00001
NM_001165963.4(SCN1A):c.3426A>G (p.Lys1142=) rs753202524 0.00001
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=) rs761878186 0.00001
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=) rs1057524122 0.00001
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=) rs200745708 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=) rs998325208 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4284+14A>G rs370074740 0.00001
NM_001165963.4(SCN1A):c.4284+19C>A rs1383995139 0.00001
NM_001165963.4(SCN1A):c.4338+12T>C rs761062999 0.00001
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=) rs587781146 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
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.3165CAA[1] (p.Asn1056del) rs796053069
NM_001165963.4(SCN1A):c.3249A>C (p.Thr1083=) rs1042252202
NM_001165963.4(SCN1A):c.3430-7C>A rs975085305
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.3705+17A>G rs1553532428
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=) rs771494149
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.4002+6A>G rs1553529408
NM_001165963.4(SCN1A):c.4003-8T>C rs1553525411
NM_001165963.4(SCN1A):c.4338+18dup rs1064795145
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4476+6T>C rs1057523807
NM_001165963.4(SCN1A):c.4477-11C>A rs775315152
NM_001165963.4(SCN1A):c.4506A>G (p.Glu1502=) rs587781147
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4582-4A>C rs1057521695
NM_001165963.4(SCN1A):c.4582-4A>G rs1057521695
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=) rs1057521371
NM_001165963.4(SCN1A):c.4870C>T (p.Leu1624=) rs1553520513
NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His)
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.4(SCN1A):c.4980C>T (p.Leu1660=) rs1057521307
NM_001165963.4(SCN1A):c.5026C>T (p.Leu1676=) rs1553520391
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=) rs777044331
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) rs1553520293
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5356C>T (p.Leu1786=) rs587781148
NM_001165963.4(SCN1A):c.5379T>A (p.Thr1793=) rs1553520152
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg) rs1553520084
NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu) rs2105426648
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) rs1689190343
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=) rs554861427
NM_001165963.4(SCN1A):c.5770_5790del (p.Arg1924_Leu1930del) rs796053088
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=) rs1351809843
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln) rs556893466

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