ClinVar Miner

List of variants in gene CASQ2 reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 292
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001232.4(CASQ2):c.*1207A>G rs183297938 0.00310
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001232.3(CASQ2):c.-222C>T rs72703671 0.00231
NM_001232.4(CASQ2):c.*1023A>G rs74520962 0.00181
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001232.3(CASQ2):c.-221G>A rs558523657 0.00112
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_001232.3(CASQ2):c.-234C>A rs553316024 0.00067
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_001232.3(CASQ2):c.-261T>A rs147113781 0.00026
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_001232.4(CASQ2):c.*38G>A rs199955994 0.00017
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001232.3(CASQ2):c.-225G>A rs535999427 0.00011
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.*175T>G rs563342580 0.00009
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
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.758G>A (p.Arg253His) rs199571249 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.1121A>G (p.Asp374Gly) rs886045158 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
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.*574T>C rs926002665 0.00004
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.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 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.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.234+2T>C rs757789935 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 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.737+6T>A rs760688872 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001232.4(CASQ2):c.*1052A>G rs886045156 0.00001
NM_001232.4(CASQ2):c.*636G>C rs917180844 0.00001
NM_001232.4(CASQ2):c.*655C>T rs766012096 0.00001
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) rs575326580 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.10A>T (p.Thr4Ser) rs747077051 0.00001
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) rs940257382 0.00001
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp) rs772619751 0.00001
NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr) rs747847223 0.00001
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg) rs1163471411 0.00001
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe) rs746405346 0.00001
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys) rs376824588 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu) rs774492523 0.00001
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) rs1373884863 0.00001
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala) rs1649199632 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.257A>G (p.His86Arg) rs372587044 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.311A>C (p.Lys104Thr) rs781062859 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.449G>T (p.Ser150Ile) rs772041539 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.501C>G (p.Leu167=) rs146051391 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.533-12T>G rs774246167 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.738-3C>A rs876657750 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=) rs764692110 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser) rs781565627 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
GRCh37/hg19 1p13.1(chr1:116245898-116288841)x3
NC_000001.10:g.(?_116243862)_(116287553_?)dup
NC_000001.10:g.(?_116243862)_(116311162_?)dup
NC_000001.10:g.(?_116260441)_(116311162_?)dup
NC_000001.10:g.(?_116275502)_(116280976_?)dup
NC_000001.11:g.(?_115701231)_(115744922_?)dup
NM_001232.3(CASQ2):c.-221_-220GT[10] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[11] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[12] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[5] rs72554067
NM_001232.3(CASQ2):c.-226C>G rs72703672
NM_001232.3(CASQ2):c.[730C>T;731A>G]
NM_001232.4(CASQ2):c.*1017dup rs11347859
NM_001232.4(CASQ2):c.*1183CTAA[1] rs886045155
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-105A>G rs886045161
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
NM_001232.4(CASQ2):c.1014+3G>A rs1654250763
NM_001232.4(CASQ2):c.1015-1G>A rs1654202571
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys) rs2101052355
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)
NM_001232.4(CASQ2):c.1051G>A (p.Asp351Asn) rs267597944
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.1085T>C (p.Ile362Thr) rs1557783735
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs) rs397516639
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1]) rs764957093
NM_001232.4(CASQ2):c.1120G>A (p.Asp374Asn) rs886045159
NM_001232.4(CASQ2):c.1121A>T (p.Asp374Val) rs886045158
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1127A>G (p.Asp376Gly) rs786205796
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[4] (p.Asp382_Asp383del)
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.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu) rs1206628721
NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys)
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) rs756636650
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp) rs1570791816
NM_001232.4(CASQ2):c.1179TGA[3] (p.Asp398dup) rs786205267
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu) rs751885773
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del) rs72554070
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.1192G>A (p.Asp398Asn) rs1654192683
NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys) rs1344875325
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)
NM_001232.4(CASQ2):c.11C>T (p.Thr4Ile) rs200558909
NM_001232.4(CASQ2):c.13C>G (p.His5Asp) rs1649206958
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr) rs151168851
NM_001232.4(CASQ2):c.16T>A (p.Leu6Met)
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr) rs866858282
NM_001232.4(CASQ2):c.178G>C (p.Val60Leu)
NM_001232.4(CASQ2):c.18_20del (p.Leu6del) rs786205794
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val) rs1649206559
NM_001232.4(CASQ2):c.235-3C>T rs1186837357
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr) rs1553197935
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val) rs1648331024
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) rs1274422352
NM_001232.4(CASQ2):c.258T>G (p.His86Gln)
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.278T>C (p.Met93Thr) rs1328122344
NM_001232.4(CASQ2):c.279G>A (p.Met93Ile)
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr) rs2101100994
NM_001232.4(CASQ2):c.290A>C (p.Lys97Thr)
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
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.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
NM_001232.4(CASQ2):c.337A>G (p.Ser113Gly)
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) rs752330104
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) rs1648148662
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_001232.4(CASQ2):c.362G>T (p.Arg121Leu)
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.406G>A (p.Glu136Lys)
NM_001232.4(CASQ2):c.420+17A>T
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) rs1570831673
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg) rs1648036832
NM_001232.4(CASQ2):c.440A>G (p.Glu147Gly) rs1553195093
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) rs1060502165
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del) rs1648034165
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
NM_001232.4(CASQ2):c.493A>G (p.Ile165Val)
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn) rs2101091967
NM_001232.4(CASQ2):c.4A>G (p.Lys2Glu)
NM_001232.4(CASQ2):c.532T>C (p.Tyr178His) rs1648031031
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg) rs886039816
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro) rs745879915
NM_001232.4(CASQ2):c.562C>T (p.His188Tyr)
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr) rs755558916
NM_001232.4(CASQ2):c.589G>T (p.Ala197Ser)
NM_001232.4(CASQ2):c.58G>T (p.Glu20Ter) rs2101130710
NM_001232.4(CASQ2):c.5A>G (p.Lys2Arg) rs1649207434
NM_001232.4(CASQ2):c.600C>G (p.Asp200Glu)
NM_001232.4(CASQ2):c.606G>A (p.Gly202=) rs1647836874
NM_001232.4(CASQ2):c.607-10A>G rs949456037
NM_001232.4(CASQ2):c.607-4A>G
NM_001232.4(CASQ2):c.61G>A (p.Glu21Lys)
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe) rs373227317
NM_001232.4(CASQ2):c.652G>A (p.Glu218Lys) rs1557792917
NM_001232.4(CASQ2):c.676G>T (p.Ala226Ser)
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg) rs2101079136
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys) rs2101079130
NM_001232.4(CASQ2):c.691C>A (p.Pro231Thr) rs749796276
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.705G>T (p.Glu235Asp) rs746446022
NM_001232.4(CASQ2):c.713T>C (p.Val238Ala)
NM_001232.4(CASQ2):c.737+14C>T
NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser)
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg) rs768261470
NM_001232.4(CASQ2):c.749G>A (p.Arg250His)
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro) rs199571249
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu) rs199571249
NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln)
NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly)
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg) rs397516642
NM_001232.4(CASQ2):c.783+3A>G rs876657751
NM_001232.4(CASQ2):c.783+3A>T rs876657751
NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys)
NM_001232.4(CASQ2):c.802A>G (p.Ile268Val) rs2101068841
NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu)
NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) rs762381137
NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln)
NM_001232.4(CASQ2):c.824A>T (p.Glu275Val) rs1557789393
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr) rs769435706
NM_001232.4(CASQ2):c.837A>G (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.837A>T (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser) rs368165922
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys) rs923161859
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg) rs974622106
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup) rs1557785041
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr) rs979113189
NM_001232.4(CASQ2):c.91A>G (p.Lys31Glu)
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) rs139228801
NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly) rs72703607
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys)
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val) rs1654321088
NM_001232.4(CASQ2):c.939+3G>A
NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys)
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr) rs1654255083
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu) rs2101053786
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu) rs749547712
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr) rs2101053760
NM_001232.4(CASQ2):c.997G>T (p.Val333Leu)

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