ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for History of neurodevelopmental disorder

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Total variants: 45
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HGVS dbSNP
NM_001165963.1(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.1(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.1(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.1(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
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.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.1(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.1(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.1(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
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.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.1(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
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.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.1(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.2(SCN1A):c.3152T>C (p.Leu1051Pro)
NM_001165963.2(SCN1A):c.3166A>G (p.Asn1056Asp)
NM_001165963.2(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.2(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.2(SCN1A):c.4301G>A (p.Trp1434Ter)
NM_001165963.2(SCN1A):c.4338+1G>C
NM_001165963.2(SCN1A):c.4384T>C (p.Tyr1462His)
NM_001165963.2(SCN1A):c.4450_4453del (p.Asp1484Ilefs)
NM_001165963.2(SCN1A):c.4574G>A (p.Arg1525Gln)
NM_001165963.2(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360
NM_001165963.2(SCN1A):c.4697G>A (p.Ser1566Asn)
NM_001165963.2(SCN1A):c.4717T>C (p.Leu1573=)
NM_001165963.2(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344
NM_001165963.2(SCN1A):c.5995C>T (p.Gln1999Ter)
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.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956

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