ClinVar Miner

List of variants in gene SCN2A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 71
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HGVS dbSNP
NM_001040142.2(SCN2A):c.1031C>T (p.Ala344Val)
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=) rs532681917
NM_001040142.2(SCN2A):c.1313A>T (p.Glu438Val) rs1553569017
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=) rs753341735
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn) rs1574591292
NM_001040142.2(SCN2A):c.1755G>C (p.Lys585Asn) rs370685828
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.187C>T (p.Pro63Ser) rs1064797259
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_001040142.2(SCN2A):c.1965C>T (p.Ser655=)
NM_001040142.2(SCN2A):c.2217G>A (p.Trp739Ter)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2562+2T>C
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441
NM_001040142.2(SCN2A):c.2621T>C (p.Ile874Thr)
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224
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.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=)
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
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.3850-3T>C rs1445707939
NM_001040142.2(SCN2A):c.3850-3T>G
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.3954C>A (p.Ser1318=) rs139507841
NM_001040142.2(SCN2A):c.413C>G (p.Thr138Arg) rs764044312
NM_001040142.2(SCN2A):c.4551+8T>A rs1064797263
NM_001040142.2(SCN2A):c.4575T>G (p.Phe1525Leu) rs1574746559
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val) rs1574752573
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5317_5325del (p.Ala1773_Ile1775del) rs1553463597
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324
NM_001040142.2(SCN2A):c.5438T>C (p.Ile1813Thr)
NM_001040142.2(SCN2A):c.5480_5482CTC[3] (p.Pro1828dup) rs1553463673
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.5531T>C (p.Leu1844Pro) rs1574753240
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720
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.5580T>G (p.Ala1860=) rs752845880
NM_001040142.2(SCN2A):c.5690C>T (p.Thr1897Met) rs1310973051
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462
NM_001040142.2(SCN2A):c.603T>C (p.Phe201=)
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+7A>G rs1064797261
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=) rs370724112
NM_001040142.2(SCN2A):c.765T>C (p.Thr255=) rs1064797262
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102

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