ClinVar Miner

List of variants in gene CASQ2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
Download table as spreadsheet
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.-21G>A rs12067472 0.01521
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_001232.4(CASQ2):c.319+40C>T rs28730719 0.00191
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
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.320-18C>T rs376871374 0.00032
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.338G>A (p.Ser113Asn) rs199750975 0.00014
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.*175T>G rs563342580 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 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.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.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.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.627G>A (p.Leu209=) rs1291884749 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.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.10A>T (p.Thr4Ser) rs747077051 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.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.737+19G>C rs761915819 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
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.-30T>C rs1057521312
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.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1185del (p.Asp395fs) rs786205789
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.13C>G (p.His5Asp) rs1649206958
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
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.235-2A>G rs1060502164
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.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.533-271C>T rs143253394
NM_001232.4(CASQ2):c.533-297G>C rs190719296
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.607-10A>G rs949456037
NM_001232.4(CASQ2):c.621A>G (p.Leu207=) rs1057522481
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.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.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G 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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.