ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys) rs367833365 0.00005
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.1755G>C (p.Lys585Asn) rs370685828 0.00001
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614 0.00001
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile) rs756738916 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3704G>A (p.Arg1235Gln) rs1277341116 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser) rs764538126 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001371246.1(SCN2A):c.649C>T (p.Arg217Ter) rs558474027 0.00001
NM_001040142.2(SCN2A):c.1474A>C (p.Lys492Gln)
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn) rs1574591292
NM_001040142.2(SCN2A):c.1729C>A (p.Leu577Ile) rs796053187
NM_001040142.2(SCN2A):c.187C>T (p.Pro63Ser) rs1064797259
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2152C>T (p.Leu718Phe) rs2105293240
NM_001040142.2(SCN2A):c.2179C>T (p.Pro727Ser) rs1339703326
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr) rs924845392
NM_001040142.2(SCN2A):c.2388+5G>C
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=) rs1574664203
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.3019G>A (p.Val1007Met) rs1574664452
NM_001040142.2(SCN2A):c.3109G>A (p.Asp1037Asn) rs926542477
NM_001040142.2(SCN2A):c.311G>A (p.Ser104Asn) rs139756067
NM_001040142.2(SCN2A):c.319C>T (p.Pro107Ser) rs1180045562
NM_001040142.2(SCN2A):c.3395A>C (p.Lys1132Thr) rs2105337628
NM_001040142.2(SCN2A):c.3446G>A (p.Gly1149Glu) rs771772014
NM_001040142.2(SCN2A):c.3557T>C (p.Ile1186Thr)
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
NM_001040142.2(SCN2A):c.3712A>G (p.Ile1238Val) rs1700951980
NM_001040142.2(SCN2A):c.386+6C>T rs1696552225
NM_001040142.2(SCN2A):c.387T>A (p.Ser129=) rs1064797260
NM_001040142.2(SCN2A):c.3951G>C (p.Leu1317Phe) rs1574712189
NM_001040142.2(SCN2A):c.413C>G (p.Thr138Arg) rs764044312
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
NM_001040142.2(SCN2A):c.4446+5G>A
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His) rs2105385911
NM_001040142.2(SCN2A):c.4551+8T>A rs1064797263
NM_001040142.2(SCN2A):c.4575T>G (p.Phe1525Leu) rs1574746559
NM_001040142.2(SCN2A):c.5021A>G (p.Tyr1674Cys)
NM_001040142.2(SCN2A):c.5043T>G (p.Asn1681Lys) rs770118417
NM_001040142.2(SCN2A):c.5174A>G (p.Asn1725Ser) rs1352067101
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val) rs1574752573
NM_001040142.2(SCN2A):c.5317_5325del (p.Ala1773_Ile1775del) rs1553463597
NM_001040142.2(SCN2A):c.5327T>C (p.Leu1776Pro) rs2105402988
NM_001040142.2(SCN2A):c.5438T>C (p.Ile1813Thr) rs1702029075
NM_001040142.2(SCN2A):c.543A>G (p.Leu181=) rs796053170
NM_001040142.2(SCN2A):c.5480CTC[3] (p.Pro1828dup) rs1553463673
NM_001040142.2(SCN2A):c.5531T>C (p.Leu1844Pro) rs1574753240
NM_001040142.2(SCN2A):c.5545G>C (p.Gly1849Arg) rs1553463708
NM_001040142.2(SCN2A):c.5550C>A (p.Asp1850Glu) rs1553463712
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile) rs2105403397
NM_001040142.2(SCN2A):c.5690C>T (p.Thr1897Met) rs1310973051
NM_001040142.2(SCN2A):c.5882A>G (p.Glu1961Gly)
NM_001040142.2(SCN2A):c.605+7A>G rs1064797261
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile) rs1697362478
NM_001040142.2(SCN2A):c.765T>C (p.Thr255=) rs1064797262

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