ClinVar Miner

List of variants in gene SCN2A reported by Ambry Genetics

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Gene type:
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Total variants: 81
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HGVS dbSNP
NM_001040142.2(SCN2A):c.101C>T (p.Ala34Val) rs1553564177
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371
NM_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900
NM_001040142.2(SCN2A):c.1103A>T (p.Asp368Val) rs1559355584
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg)
NM_001040142.2(SCN2A):c.1568T>C (p.Val523Ala) rs1559357469
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1728C>G (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=)
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val)
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)
NM_001040142.2(SCN2A):c.2226T>C (p.Cys742=) rs1553574579
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.2874G>C (p.Met958Ile) rs1559377161
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs) rs1553583712
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr) rs1197983141
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=)
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr)
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=) rs552725434
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.3932T>G (p.Leu1311Arg) rs1559397843
NM_001040142.2(SCN2A):c.4196A>G (p.Lys1399Arg) rs1559399453
NM_001040142.2(SCN2A):c.4461C>T (p.Asp1487=) rs1553462203
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=)
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe) rs1553463464
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val)
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu) rs1553463594
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu)
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.5613G>A (p.Glu1871=) rs1558886661
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
NM_001040142.2(SCN2A):c.5818T>C (p.Cys1940Arg)
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.606-125G>T rs1553567488
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser)
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667

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