ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by Invitae

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Gene type:
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Total variants: 95
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HGVS dbSNP
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly)
NM_001040142.2(SCN2A):c.1046A>C (p.Glu349Ala)
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser)
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser) rs1553568970
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)
NM_001040142.2(SCN2A):c.1285G>A (p.Glu429Lys) rs1553568987
NM_001040142.2(SCN2A):c.1330G>A (p.Ala444Thr)
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val)
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1436G>A (p.Gly479Glu)
NM_001040142.2(SCN2A):c.1484C>G (p.Ser495Cys) rs140661535
NM_001040142.2(SCN2A):c.1538A>G (p.Gln513Arg)
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His)
NM_001040142.2(SCN2A):c.1672-3T>C rs769105267
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912
NM_001040142.2(SCN2A):c.1919T>C (p.Met640Thr) rs1559362618
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val)
NM_001040142.2(SCN2A):c.2016+5G>A
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln)
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu) rs867268264
NM_001040142.2(SCN2A):c.2320C>T (p.Leu774Phe) rs1458651318
NM_001040142.2(SCN2A):c.2506A>T (p.Met836Leu) rs1553578445
NM_001040142.2(SCN2A):c.2508G>A (p.Met836Ile) rs1559375240
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2776C>G (p.His926Asp)
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124
NM_001040142.2(SCN2A):c.2985T>A (p.Asp995Glu) rs1336113495
NM_001040142.2(SCN2A):c.2987A>G (p.Asp996Gly)
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899
NM_001040142.2(SCN2A):c.3065G>A (p.Arg1022His)
NM_001040142.2(SCN2A):c.3068A>T (p.Glu1023Val) rs1411722259
NM_001040142.2(SCN2A):c.3157A>G (p.Ile1053Val)
NM_001040142.2(SCN2A):c.3177A>G (p.Ile1059Met)
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg) rs1553589034
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_001040142.2(SCN2A):c.3666_3668del (p.Ser1222_Gly1223delinsArg)
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020
NM_001040142.2(SCN2A):c.3811A>G (p.Thr1271Ala) rs1559395577
NM_001040142.2(SCN2A):c.3944G>T (p.Arg1315Ile) rs796053129
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4118A>G (p.Glu1373Gly)
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322
NM_001040142.2(SCN2A):c.4201G>C (p.Val1401Leu) rs1264909971
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
NM_001040142.2(SCN2A):c.422C>G (p.Thr141Ser) rs1553567082
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.424A>G (p.Asn142Asp)
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val) rs368657915
NM_001040142.2(SCN2A):c.4435C>G (p.Gln1479Glu) rs1553462134
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=)
NM_001040142.2(SCN2A):c.4883T>C (p.Ile1628Thr) rs1553463420
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4892C>G (p.Ala1631Gly)
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val)
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5364G>T (p.Glu1788Asp)
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn)
NM_001040142.2(SCN2A):c.5426C>T (p.Ala1809Val) rs1553463646
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu)
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5488C>T (p.Leu1830Phe)
NM_001040142.2(SCN2A):c.5603A>G (p.Glu1868Gly) rs1553463750
NM_001040142.2(SCN2A):c.5654C>T (p.Ala1885Val) rs1553463800
NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr) rs1553463814
NM_001040142.2(SCN2A):c.5675C>T (p.Ser1892Phe) rs1558886841
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys)
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys)
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys)
NM_001040142.2(SCN2A):c.5984A>G (p.Asp1995Gly)
NM_001040142.2(SCN2A):c.599C>G (p.Thr200Ser)
NM_001040142.2(SCN2A):c.6009_6015TAAAAAG[1] (p.Ter2006LysextTer?)
NM_001040142.2(SCN2A):c.602T>C (p.Phe201Ser) rs1553567406
NM_001040142.2(SCN2A):c.679A>G (p.Thr227Ala) rs1559352572
NM_001040142.2(SCN2A):c.697+3G>A rs754960917
NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile) rs1553567950
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.88G>A (p.Ala30Thr) rs1337092354
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700

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