ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance for Inborn genetic diseases

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308 0.00012
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_001040142.2(SCN2A):c.3102A>C (p.Lys1034Asn) rs772956132 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser) rs753821498 0.00002
NM_001040142.2(SCN2A):c.145G>A (p.Gly49Ser) rs773605666 0.00001
NM_001040142.2(SCN2A):c.1577C>T (p.Ser526Leu) rs749504084 0.00001
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
NM_001040142.2(SCN2A):c.1661C>T (p.Ser554Phe) rs764865753 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124 0.00001
NM_001040142.2(SCN2A):c.3083C>G (p.Ala1028Gly) rs553589945 0.00001
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr) rs1197983141 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val) rs1433862850 0.00001
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val) rs755159786 0.00001
NM_001040142.2(SCN2A):c.5818T>C (p.Cys1940Arg) rs747846577 0.00001
NM_001040142.2(SCN2A):c.101C>T (p.Ala34Val) rs1553564177
NM_001040142.2(SCN2A):c.1103A>T (p.Asp368Val) rs1559355584
NM_001040142.2(SCN2A):c.1314G>C (p.Glu438Asp) rs1697590312
NM_001040142.2(SCN2A):c.1379C>T (p.Ala460Val)
NM_001040142.2(SCN2A):c.1393G>T (p.Ala465Ser)
NM_001040142.2(SCN2A):c.1519A>G (p.Lys507Glu) rs1553569649
NM_001040142.2(SCN2A):c.1568T>C (p.Val523Ala) rs1559357469
NM_001040142.2(SCN2A):c.1661C>A (p.Ser554Tyr)
NM_001040142.2(SCN2A):c.1728C>G (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val) rs1017711579
NM_001040142.2(SCN2A):c.1988T>A (p.Leu663His)
NM_001040142.2(SCN2A):c.2180C>T (p.Pro727Leu)
NM_001040142.2(SCN2A):c.2187G>C (p.Trp729Cys)
NM_001040142.2(SCN2A):c.2334G>A (p.Met778Ile)
NM_001040142.2(SCN2A):c.2420T>C (p.Phe807Ser)
NM_001040142.2(SCN2A):c.2422C>A (p.Leu808Ile)
NM_001040142.2(SCN2A):c.2450A>G (p.Tyr817Cys)
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2819G>A (p.Cys940Tyr)
NM_001040142.2(SCN2A):c.2874G>C (p.Met958Ile) rs1559377161
NM_001040142.2(SCN2A):c.2890A>T (p.Met964Leu)
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr) rs373780066
NM_001040142.2(SCN2A):c.3489A>C (p.Glu1163Asp)
NM_001040142.2(SCN2A):c.3521-3T>C
NM_001040142.2(SCN2A):c.3521A>G (p.Asp1174Gly)
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
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.3844G>T (p.Val1282Phe) rs1184922927
NM_001040142.2(SCN2A):c.3932T>G (p.Leu1311Arg) rs1559397843
NM_001040142.2(SCN2A):c.3977T>C (p.Val1326Ala)
NM_001040142.2(SCN2A):c.4196A>G (p.Lys1399Arg) rs1559399453
NM_001040142.2(SCN2A):c.4540C>A (p.Pro1514Thr)
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys) rs1702006147
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4975G>C (p.Ala1659Pro)
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5195A>C (p.Asp1732Ala)
NM_001040142.2(SCN2A):c.5251G>T (p.Val1751Phe)
NM_001040142.2(SCN2A):c.5422G>C (p.Asp1808His)
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu) rs779432244
NM_001040142.2(SCN2A):c.5618A>G (p.Asp1873Gly)
NM_001040142.2(SCN2A):c.5696C>T (p.Thr1899Met)
NM_001040142.2(SCN2A):c.5798A>G (p.Lys1933Arg)
NM_001040142.2(SCN2A):c.850G>A (p.Asp284Asn)
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.937A>G (p.Ile313Val)
NM_001040142.2(SCN2A):c.9G>C (p.Gln3His)
NM_001371246.1(SCN2A):c.668G>T (p.Arg223Ile) rs1553567488

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