ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
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.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720 0.00009
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=) rs760963593 0.00008
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=) rs749540280 0.00005
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys) rs367833365 0.00005
NM_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=) rs781717883 0.00004
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=) rs148604854 0.00004
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041 0.00004
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=) rs532681917 0.00003
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=) rs368988956 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=) rs1449263336 0.00003
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=) rs559725593 0.00002
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.3850-3T>C rs1445707939 0.00002
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=) rs753341735 0.00001
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.1965C>T (p.Ser655=) rs914170392 0.00001
NM_001040142.2(SCN2A):c.2278T>A (p.Phe760Ile) rs775759603 0.00001
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=) rs777805952 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 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.3735T>C (p.Ala1245=) rs527970192 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.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 0.00001
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=) rs902710874 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.618G>A (p.Glu206=) rs2228983 0.00001
NM_001371246.1(SCN2A):c.649C>T (p.Arg217Ter) rs558474027 0.00001
NM_001040142.2(SCN2A):c.*437G>A rs553239308
NM_001040142.2(SCN2A):c.-51-1722_-51-1720dup
NM_001040142.2(SCN2A):c.1031C>T (p.Ala344Val) rs1697465574
NM_001040142.2(SCN2A):c.1034+1G>A rs2105251544
NM_001040142.2(SCN2A):c.1313A>T (p.Glu438Val) rs1553569017
NM_001040142.2(SCN2A):c.1474A>C (p.Lys492Gln)
NM_001040142.2(SCN2A):c.161G>A (p.Ser54Asn)
NM_001040142.2(SCN2A):c.1672-2786C>T
NM_001040142.2(SCN2A):c.1672-2816C>T
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.1833G>A (p.Leu611=) rs1057522258
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.2017-2A>G rs2105284299
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2151A>G (p.Glu717=)
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.2200A>G (p.Asn734Asp) rs1698664901
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr) rs924845392
NM_001040142.2(SCN2A):c.2217G>A (p.Trp739Ter) rs868074288
NM_001040142.2(SCN2A):c.2388+5G>C
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2562+2T>C rs1574636792
NM_001040142.2(SCN2A):c.2621T>C (p.Ile874Thr) rs1699476042
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.2667C>T (p.Ala889=)
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
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.3456C>A (p.Ala1152=)
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.3533A>T (p.Lys1178Met)
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.3850-3T>G rs1445707939
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.4095T>C (p.His1365=) rs2105373121
NM_001040142.2(SCN2A):c.413C>G (p.Thr138Arg) rs764044312
NM_001040142.2(SCN2A):c.4146C>T (p.Asn1382=)
NM_001040142.2(SCN2A):c.415A>G (p.Ile139Val) rs2105241347
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4322C>G (p.Pro1441Arg)
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=) rs2105384625
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.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4551+8T>A rs1064797263
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=) rs1574746483
NM_001040142.2(SCN2A):c.4575T>G (p.Phe1525Leu) rs1574746559
NM_001040142.2(SCN2A):c.4626C>T (p.Cys1542=) rs1553463046
NM_001040142.2(SCN2A):c.4642A>G (p.Met1548Val)
NM_001040142.2(SCN2A):c.466A>G (p.Lys156Glu) rs1553567130
NM_001040142.2(SCN2A):c.4778G>T (p.Gly1593Val) rs2105398592
NM_001040142.2(SCN2A):c.4815C>T (p.Ser1605=)
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4913G>A (p.Arg1638His)
NM_001040142.2(SCN2A):c.4948C>T (p.Leu1650Phe) rs1702008323
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
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.5211C>T (p.His1737=) rs2105402755
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.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.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.5882A>G (p.Glu1961Gly)
NM_001040142.2(SCN2A):c.603T>C (p.Phe201=) rs1697273790
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+7A>G rs1064797261
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
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.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile) rs1697362478
NM_001040142.2(SCN2A):c.765T>C (p.Thr255=) rs1064797262
NM_001040142.2(SCN2A):c.779G>T (p.Ser260Ile) rs2105247310
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)

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