ClinVar Miner

List of variants in gene CASQ2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.320-176T>C rs7551613 0.71134
NM_001232.4(CASQ2):c.320-250T>C rs7551633 0.71128
NM_001232.4(CASQ2):c.320-298A>G rs7554582 0.70445
NM_001232.4(CASQ2):c.320-77C>T rs7538337 0.70440
NM_001232.4(CASQ2):c.784-89C>T rs2997742 0.58397
NM_001232.4(CASQ2):c.940-193G>A rs6667224 0.57067
NM_001232.4(CASQ2):c.738-109G>A rs4475752 0.51757
NM_001232.4(CASQ2):c.235-149A>G rs9428211 0.43555
NM_001232.4(CASQ2):c.939+278C>G rs3811005 0.39959
NM_001232.4(CASQ2):c.939+23C>T rs3811003 0.39341
NM_001232.4(CASQ2):c.940-283A>G rs6675002 0.37814
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.234+111C>G rs4484922 0.32879
NM_001232.4(CASQ2):c.319+144G>A rs10127797 0.26876
NM_001232.4(CASQ2):c.235-101T>C rs10801969 0.26862
NM_001232.4(CASQ2):c.235-118C>T rs10801970 0.26860
NM_001232.4(CASQ2):c.1015-251G>T rs4614259 0.23021
NM_001232.4(CASQ2):c.784-29G>A rs3811001 0.22810
NM_001232.4(CASQ2):c.940-39C>G rs12402684 0.19253
NM_001232.4(CASQ2):c.1015-119G>A rs80057683 0.18183
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_001232.4(CASQ2):c.235-301C>T rs34065642 0.06147
NM_001232.3(CASQ2):c.-587G>A rs79342009 0.05311
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_001232.4(CASQ2):c.234+29G>A rs12067339 0.05117
NM_001232.4(CASQ2):c.420+220T>C rs28730717 0.03173
NM_001232.4(CASQ2):c.939+268G>A rs72703604 0.03006
NM_001232.3(CASQ2):c.-380A>G rs60107062 0.02781
NM_001232.4(CASQ2):c.320-268G>T rs12117088 0.02764
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.783+280C>T rs74985404 0.02402
NM_001232.4(CASQ2):c.940-60G>T rs28730714 0.02119
NM_001232.4(CASQ2):c.939+132G>T rs115673492 0.02117
NM_001232.4(CASQ2):c.784-55A>G rs28730715 0.01852
NM_001232.4(CASQ2):c.607-113C>T rs41267507 0.01700
NM_001232.4(CASQ2):c.939+190G>A rs72703606 0.01466
NM_001232.4(CASQ2):c.738-121C>T rs76232874 0.01422
NM_001232.3(CASQ2):c.-206T>C rs112210550 0.01359
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.784-247T>A rs74865143 0.01101
NM_001232.4(CASQ2):c.320-278C>T rs78765093 0.01074
NM_001232.4(CASQ2):c.420+226T>A rs113842982 0.00955
NM_001232.4(CASQ2):c.783+256C>G rs115594101 0.00638
NM_001232.4(CASQ2):c.783+59T>G rs114869970 0.00598
NM_001232.4(CASQ2):c.838+275C>T rs147009060 0.00597
NM_001232.4(CASQ2):c.235-80T>C rs115375015 0.00590
NM_001232.4(CASQ2):c.607-25T>G rs72554064 0.00531
NM_001232.4(CASQ2):c.737+28G>A rs145482197 0.00434
NM_001232.4(CASQ2):c.783+116C>A rs113914107 0.00432
NM_001232.4(CASQ2):c.607-284A>G rs144941661 0.00359
NM_001232.4(CASQ2):c.234+297C>A rs549709233 0.00334
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.319+40C>T rs28730719 0.00191
NM_001232.4(CASQ2):c.-47A>G rs76307764 0.00143
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 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.784-52C>T rs3811000 0.00037
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.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001232.4(CASQ2):c.421-18G>C rs202228431 0.00011
NM_001232.4(CASQ2):c.421-20A>T rs201559752 0.00011
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.*175T>G rs563342580 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.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.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
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.927C>T (p.Asp309=) rs749266321 0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.-22C>T rs180956898 0.00003
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 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.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 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.737+6T>A rs760688872 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.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.10A>T (p.Thr4Ser) rs747077051 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
GRCh37/hg19 1p13.1(chr1:116245898-116288841)x3
NC_000001.11:g.115768856CT[1] rs3842501
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.-581T>G rs79216466
NM_001232.4(CASQ2):c.-20A>G rs779306896
NM_001232.4(CASQ2):c.1014+161C>A rs3934652
NM_001232.4(CASQ2):c.1014+180G>A rs10923210
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1083G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.1127A>G (p.Asp376Gly) rs786205796
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
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.1185del (p.Asp395fs) rs786205789
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
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.18_20del (p.Leu6del) rs786205794
NM_001232.4(CASQ2):c.204del (p.Lys68fs) rs786205795
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.234+10789C>T
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.25G>T (p.Val9Leu)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.319+92G>A rs28730718
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) rs752330104
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) rs1570831673
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.532+9T>G rs1280215477
NM_001232.4(CASQ2):c.533-271C>T rs143253394
NM_001232.4(CASQ2):c.533-297G>C rs190719296
NM_001232.4(CASQ2):c.58G>T (p.Glu20Ter) rs2101130710
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.607-10A>G rs949456037
NM_001232.4(CASQ2):c.652G>A (p.Glu218Lys) rs1557792917
NM_001232.4(CASQ2):c.691C>A (p.Pro231Thr) rs749796276
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) rs780769796
NM_001232.4(CASQ2):c.711G>A (p.Leu237=) rs777363402
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.737+282G>T rs6661781
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser)
NM_001232.4(CASQ2):c.744T>A (p.Thr248=)
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.802A>G (p.Ile268Val) rs2101068841
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) rs762381137
NM_001232.4(CASQ2):c.838+263_838+266del rs199715757
NM_001232.4(CASQ2):c.839-253G>A rs114396832
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly) rs72703607
NM_001232.4(CASQ2):c.939+256G>C rs3811004
NM_001232.4(CASQ2):c.939+256G>T rs3811004
NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn) rs147941846
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556

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