ClinVar Miner

List of variants in gene CASQ2 reported by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001232.4(CASQ2):c.855G>C (p.Leu285=) rs148562107 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) rs752053912 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) rs781113955 0.00004
NM_001232.4(CASQ2):c.924G>A (p.Pro308=) rs761798969 0.00004
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) rs1291884749 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) rs769189583 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) rs754879716 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) rs575326580 0.00001
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) rs758060229 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) rs755766840 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) rs886038422 0.00001
NM_001232.4(CASQ2):c.501C>G (p.Leu167=) rs146051391 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)
NM_001232.4(CASQ2):c.1047T>C (p.Asp349=)
NM_001232.4(CASQ2):c.1051G>A (p.Asp351Asn) rs267597944
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) rs754889548
NM_001232.4(CASQ2):c.107G>A (p.Ser36Asn)
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1084A>C (p.Ile362Leu)
NM_001232.4(CASQ2):c.1092T>C (p.Asp364=)
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del)
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.1143T>C (p.Asp381=)
NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys)
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) rs72554070
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)
NM_001232.4(CASQ2):c.133G>A (p.Val45Ile)
NM_001232.4(CASQ2):c.16T>A (p.Leu6Met)
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.178G>C (p.Val60Leu)
NM_001232.4(CASQ2):c.196_198delinsGCA (p.Thr66Ala)
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.258T>G (p.His86Gln)
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.279G>A (p.Met93Ile)
NM_001232.4(CASQ2):c.290A>C (p.Lys97Thr)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.320-3C>T
NM_001232.4(CASQ2):c.320-5T>C
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>G (p.Ser113Gly)
NM_001232.4(CASQ2):c.340C>T (p.Leu114=)
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_001232.4(CASQ2):c.362G>T (p.Arg121Leu)
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys) rs1557798151
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.38T>C (p.Phe13Ser)
NM_001232.4(CASQ2):c.395A>T (p.Asp132Val)
NM_001232.4(CASQ2):c.401T>G (p.Leu134Trp)
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
NM_001232.4(CASQ2):c.440A>G (p.Glu147Gly) rs1553195093
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.493A>G (p.Ile165Val)
NM_001232.4(CASQ2):c.4A>G (p.Lys2Glu)
NM_001232.4(CASQ2):c.532+1G>A
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.562C>T (p.His188Tyr)
NM_001232.4(CASQ2):c.589G>T (p.Ala197Ser)
NM_001232.4(CASQ2):c.600C>G (p.Asp200Glu)
NM_001232.4(CASQ2):c.61G>A (p.Glu21Lys)
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) rs2101079232
NM_001232.4(CASQ2):c.639G>A (p.Glu213=)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
NM_001232.4(CASQ2):c.676G>T (p.Ala226Ser)
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) rs780769796
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
NM_001232.4(CASQ2):c.713T>C (p.Val238Ala)
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.738-13_738-5dup
NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser)
NM_001232.4(CASQ2):c.749G>A (p.Arg250His)
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.753C>A (p.Arg251=)
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln)
NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly)
NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys)
NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu)
NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)
NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln)
NM_001232.4(CASQ2):c.876C>T (p.Ala292=)
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
NM_001232.4(CASQ2):c.918C>A (p.Ile306=)
NM_001232.4(CASQ2):c.91A>G (p.Lys31Glu)
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.930C>T (p.Asp310=)
NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys)
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys)
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.997G>T (p.Val333Leu)

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