ClinVar Miner

List of variants in gene SCN11A reported as uncertain significance for not provided

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe) rs139915721 0.00249
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val) rs150835546 0.00059
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814 0.00036
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889 0.00034
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His) rs141457896 0.00027
NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu) rs374524879 0.00023
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) rs201336927 0.00012
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634 0.00011
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191 0.00009
NM_001349253.2(SCN11A):c.2288G>A (p.Arg763His) rs372078622 0.00009
NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His) rs114854233 0.00009
NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val) rs200800847 0.00006
NM_001349253.2(SCN11A):c.2009G>A (p.Arg670His) rs199807325 0.00006
NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp) rs184088468 0.00006
NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter) rs41285132 0.00005
NM_001349253.2(SCN11A):c.2293C>T (p.Leu765Phe) rs199544186 0.00004
NM_001349253.2(SCN11A):c.2404-5C>A rs751257954 0.00004
NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly) rs373403886 0.00004
NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln) rs147061364 0.00004
NM_001349253.2(SCN11A):c.5108T>A (p.Met1703Lys) rs377712618 0.00004
NM_001349253.2(SCN11A):c.881C>T (p.Pro294Leu) rs759807932 0.00004
NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val) rs759694252 0.00003
NM_001349253.2(SCN11A):c.3916G>A (p.Val1306Ile) rs763336682 0.00003
NM_001349253.2(SCN11A):c.89G>A (p.Arg30Gln) rs775942010 0.00003
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) rs1050521607 0.00002
NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser) rs149547996 0.00002
NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr) rs374430641 0.00002
NM_001349253.2(SCN11A):c.2419A>G (p.Ile807Val) rs1055160429 0.00002
NM_001349253.2(SCN11A):c.267+17G>C rs483352933 0.00002
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter) rs145290679 0.00002
NM_001349253.2(SCN11A):c.3466C>T (p.Arg1156Cys) rs571721216 0.00002
NM_001349253.2(SCN11A):c.4380G>A (p.Thr1460=) rs777033605 0.00002
NM_001349253.2(SCN11A):c.1030A>G (p.Asn344Asp) rs899453005 0.00001
NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His) rs774075554 0.00001
NM_001349253.2(SCN11A):c.2666G>C (p.Arg889Thr) rs566379034 0.00001
NM_001349253.2(SCN11A):c.3043C>T (p.Pro1015Ser) rs1449575299 0.00001
NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val) rs778367426 0.00001
NM_001349253.2(SCN11A):c.3790T>C (p.Tyr1264His) rs2065111859 0.00001
NM_001349253.2(SCN11A):c.4432C>T (p.Arg1478Trp) rs868074183 0.00001
NM_001349253.2(SCN11A):c.4457T>C (p.Leu1486Pro) rs1294543814 0.00001
NM_001349253.2(SCN11A):c.4770C>G (p.Ile1590Met) rs768568691 0.00001
NM_001349253.2(SCN11A):c.743G>A (p.Arg248His) rs777219461 0.00001
NM_001349253.2(SCN11A):c.941G>T (p.Gly314Val) rs201513140 0.00001
NM_001349253.2(SCN11A):c.1192GTT[1] (p.Val399del) rs749659844
NM_001349253.2(SCN11A):c.1259T>A (p.Met420Lys)
NM_001349253.2(SCN11A):c.134_136del (p.Gly45del) rs768121531
NM_001349253.2(SCN11A):c.136G>A (p.Glu46Lys) rs1057519187
NM_001349253.2(SCN11A):c.1454A>G (p.Asp485Gly)
NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer) rs763788482
NM_001349253.2(SCN11A):c.1498C>G (p.Arg500Gly) rs367770852
NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter) rs367770852
NM_001349253.2(SCN11A):c.1751C>G (p.Thr584Ser) rs2065746319
NM_001349253.2(SCN11A):c.1817AGA[1] (p.Lys607del) rs1418284178
NM_001349253.2(SCN11A):c.1937G>A (p.Ser646Asn)
NM_001349253.2(SCN11A):c.193C>T (p.Leu65Phe)
NM_001349253.2(SCN11A):c.1981C>T (p.Leu661Phe)
NM_001349253.2(SCN11A):c.1982T>C (p.Leu661Pro) rs2126120934
NM_001349253.2(SCN11A):c.2011T>C (p.Ser671Pro) rs2126120886
NM_001349253.2(SCN11A):c.2219G>T (p.Gly740Val) rs2126118183
NM_001349253.2(SCN11A):c.2222C>G (p.Pro741Arg) rs369499148
NM_001349253.2(SCN11A):c.2237T>G (p.Leu746Ter)
NM_001349253.2(SCN11A):c.2452G>T (p.Glu818Ter)
NM_001349253.2(SCN11A):c.2603A>G (p.Glu868Gly)
NM_001349253.2(SCN11A):c.2695del (p.Ile899fs) rs1064793260
NM_001349253.2(SCN11A):c.2702C>A (p.Thr901Asn)
NM_001349253.2(SCN11A):c.2759C>G (p.Ala920Gly)
NM_001349253.2(SCN11A):c.276G>T (p.Met92Ile) rs1378126936
NM_001349253.2(SCN11A):c.2915A>G (p.Asp972Gly)
NM_001349253.2(SCN11A):c.3061A>C (p.Lys1021Gln) rs1306874235
NM_001349253.2(SCN11A):c.3126G>A (p.Trp1042Ter) rs2126106658
NM_001349253.2(SCN11A):c.3348G>C (p.Lys1116Asn) rs2126103755
NM_001349253.2(SCN11A):c.3368G>A (p.Cys1123Tyr) rs1169309347
NM_001349253.2(SCN11A):c.3449G>A (p.Arg1150Gln) rs951508265
NM_001349253.2(SCN11A):c.3452C>T (p.Ala1151Val)
NM_001349253.2(SCN11A):c.3897del (p.Thr1299_Leu1300insTer)
NM_001349253.2(SCN11A):c.4086dup (p.Val1363fs) rs2126079714
NM_001349253.2(SCN11A):c.4330A>G (p.Thr1444Ala) rs2064700068
NM_001349253.2(SCN11A):c.4427T>C (p.Leu1476Pro) rs2064696777
NM_001349253.2(SCN11A):c.4433G>C (p.Arg1478Pro)
NM_001349253.2(SCN11A):c.445G>T (p.Gly149Trp) rs759116099
NM_001349253.2(SCN11A):c.4529T>C (p.Ile1510Thr)
NM_001349253.2(SCN11A):c.4592T>C (p.Ile1531Thr) rs2064692341
NM_001349253.2(SCN11A):c.4655G>A (p.Gly1552Asp) rs186698829
NM_001349253.2(SCN11A):c.4849C>A (p.Pro1617Thr) rs2064685980
NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala) rs757777457
NM_001349253.2(SCN11A):c.503G>A (p.Gly168Glu)
NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys)
NM_001349253.2(SCN11A):c.5357G>A (p.Gly1786Asp)
NM_001349253.2(SCN11A):c.595G>A (p.Asp199Asn) rs1553641548
NM_001349253.2(SCN11A):c.712+1G>A rs768647693
NM_001349253.2(SCN11A):c.733G>T (p.Ala245Ser) rs1553640860
NM_001349253.2(SCN11A):c.782del (p.Phe261fs) rs1064793259
NM_001349253.2(SCN11A):c.960-2A>G

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