ClinVar Miner

List of variants in gene CASQ2 reported as likely benign for Catecholaminergic polymorphic ventricular tachycardia 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
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.320-18C>T rs376871374 0.00032
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.855G>C (p.Leu285=) rs148562107 0.00008
NM_001232.4(CASQ2):c.532+17C>A rs768587375 0.00007
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
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.606+12T>C rs763932609 0.00004
NM_001232.4(CASQ2):c.738-16_738-15insC rs747358070 0.00004
NM_001232.4(CASQ2):c.924G>A (p.Pro308=) rs761798969 0.00004
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.421-7A>T rs776008006 0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) rs1291884749 0.00003
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) rs769189583 0.00003
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=) rs753872950 0.00002
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) rs754879716 0.00002
NM_001232.4(CASQ2):c.607-17A>G rs374227794 0.00002
NM_001232.4(CASQ2):c.762A>G (p.Pro254=) rs753016201 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001232.4(CASQ2):c.1015-10C>T rs760797081 0.00001
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) rs758060229 0.00001
NM_001232.4(CASQ2):c.111T>C (p.Leu37=) rs1317500264 0.00001
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) rs1373884863 0.00001
NM_001232.4(CASQ2):c.319+18G>A rs757103068 0.00001
NM_001232.4(CASQ2):c.319+20T>C rs751551798 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) rs886038422 0.00001
NM_001232.4(CASQ2):c.495C>T (p.Ile165=) rs1447782106 0.00001
NM_001232.4(CASQ2):c.501C>G (p.Leu167=) rs146051391 0.00001
NM_001232.4(CASQ2):c.533-12T>G rs774246167 0.00001
NM_001232.4(CASQ2):c.533-15T>C rs370268584 0.00001
NM_001232.4(CASQ2):c.533-20A>G rs760173068 0.00001
NM_001232.4(CASQ2):c.606+7_606+9del rs752653901 0.00001
NM_001232.4(CASQ2):c.645C>T (p.Asp215=) rs1320292050 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.711G>T (p.Leu237=) rs777363402 0.00001
NM_001232.4(CASQ2):c.737+19G>C rs761915819 0.00001
NM_001232.4(CASQ2):c.738-19T>C rs759948112 0.00001
NM_001232.4(CASQ2):c.759C>T (p.Arg253=) rs1210277732 0.00001
NM_001232.4(CASQ2):c.784-11T>G rs761150514 0.00001
NM_001232.4(CASQ2):c.784-19T>C rs765442639 0.00001
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=) rs764692110 0.00001
NM_001232.4(CASQ2):c.903G>A (p.Leu301=) rs1350273999 0.00001
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) rs146074006 0.00001
NM_001232.4(CASQ2):c.957G>A (p.Glu319=) rs758803168 0.00001
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
NM_001232.4(CASQ2):c.1014+10C>T
NM_001232.4(CASQ2):c.1014+11C>T
NM_001232.4(CASQ2):c.1014+13T>C
NM_001232.4(CASQ2):c.1014+14G>A
NM_001232.4(CASQ2):c.1014+16G>A
NM_001232.4(CASQ2):c.1014+20G>A
NM_001232.4(CASQ2):c.1014+20G>T rs369540921
NM_001232.4(CASQ2):c.1015-16T>C
NM_001232.4(CASQ2):c.1015-20C>A
NM_001232.4(CASQ2):c.1015-6C>T
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) rs754889548
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
NM_001232.4(CASQ2):c.1122T>C (p.Asp374=)
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
NM_001232.4(CASQ2):c.114C>A (p.Ser38=) rs571353035
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=) rs1557783672
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=) rs1251308717
NM_001232.4(CASQ2):c.120G>A (p.Lys40=)
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
NM_001232.4(CASQ2):c.150C>T (p.Asp50=) rs1570867364
NM_001232.4(CASQ2):c.15C>T (p.His5=)
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
NM_001232.4(CASQ2):c.171T>C (p.His57=)
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
NM_001232.4(CASQ2):c.210C>T (p.Phe70=) rs774492523
NM_001232.4(CASQ2):c.231T>C (p.Leu77=) rs2101130383
NM_001232.4(CASQ2):c.234+13A>T
NM_001232.4(CASQ2):c.234+17C>T
NM_001232.4(CASQ2):c.234+18A>G
NM_001232.4(CASQ2):c.234+20G>A
NM_001232.4(CASQ2):c.234+8A>C
NM_001232.4(CASQ2):c.234+9C>T
NM_001232.4(CASQ2):c.235-10del
NM_001232.4(CASQ2):c.235-14A>G
NM_001232.4(CASQ2):c.235-15C>T
NM_001232.4(CASQ2):c.235-17del
NM_001232.4(CASQ2):c.235-8T>C rs2101101082
NM_001232.4(CASQ2):c.240G>A (p.Val80=) rs2101101070
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
NM_001232.4(CASQ2):c.319+10A>T
NM_001232.4(CASQ2):c.319+11T>C
NM_001232.4(CASQ2):c.319+16G>C
NM_001232.4(CASQ2):c.319+20T>A rs751551798
NM_001232.4(CASQ2):c.320-10T>C rs553194567
NM_001232.4(CASQ2):c.320-11G>T
NM_001232.4(CASQ2):c.320-15C>G
NM_001232.4(CASQ2):c.320-20G>A
NM_001232.4(CASQ2):c.320-7C>T
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
NM_001232.4(CASQ2):c.340C>T (p.Leu114=)
NM_001232.4(CASQ2):c.342G>A (p.Leu114=) rs1399153364
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) rs1648148662
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
NM_001232.4(CASQ2):c.381C>A (p.Gly127=)
NM_001232.4(CASQ2):c.420+14C>T
NM_001232.4(CASQ2):c.420+16C>T
NM_001232.4(CASQ2):c.420+16_420+17del
NM_001232.4(CASQ2):c.420+17A>G
NM_001232.4(CASQ2):c.420+18G>C
NM_001232.4(CASQ2):c.420+20G>A
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
NM_001232.4(CASQ2):c.435A>G (p.Pro145=) rs1570831633
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
NM_001232.4(CASQ2):c.48T>C (p.Ser16=) rs2101130724
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
NM_001232.4(CASQ2):c.522G>A (p.Glu174=) rs2101091922
NM_001232.4(CASQ2):c.525C>T (p.Asp175=)
NM_001232.4(CASQ2):c.532+13C>T rs1442512343
NM_001232.4(CASQ2):c.532+14C>A
NM_001232.4(CASQ2):c.532+17C>T
NM_001232.4(CASQ2):c.532+7T>A
NM_001232.4(CASQ2):c.532+7T>G
NM_001232.4(CASQ2):c.532+8G>T
NM_001232.4(CASQ2):c.532+9T>C
NM_001232.4(CASQ2):c.533-13T>C
NM_001232.4(CASQ2):c.533-15del
NM_001232.4(CASQ2):c.533-19T>C
NM_001232.4(CASQ2):c.533-5C>T
NM_001232.4(CASQ2):c.543T>G (p.Ala181=) rs912740566
NM_001232.4(CASQ2):c.564C>T (p.His188=)
NM_001232.4(CASQ2):c.603A>G (p.Lys201=) rs1557794917
NM_001232.4(CASQ2):c.606+16A>G
NM_001232.4(CASQ2):c.606+18C>T
NM_001232.4(CASQ2):c.606+7A>T rs1060504495
NM_001232.4(CASQ2):c.607-16T>A
NM_001232.4(CASQ2):c.607-17A>C
NM_001232.4(CASQ2):c.607-18T>G
NM_001232.4(CASQ2):c.607-5T>C
NM_001232.4(CASQ2):c.607-6T>C
NM_001232.4(CASQ2):c.607-7G>T
NM_001232.4(CASQ2):c.607-8G>T
NM_001232.4(CASQ2):c.607-9T>C
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) rs2101079232
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
NM_001232.4(CASQ2):c.737+12G>A
NM_001232.4(CASQ2):c.737+13G>A
NM_001232.4(CASQ2):c.737+13G>T
NM_001232.4(CASQ2):c.737+15A>G
NM_001232.4(CASQ2):c.737+16T>C
NM_001232.4(CASQ2):c.737+17G>A rs1196679914
NM_001232.4(CASQ2):c.737+17G>T
NM_001232.4(CASQ2):c.737+19G>A
NM_001232.4(CASQ2):c.737+7G>A
NM_001232.4(CASQ2):c.737+8A>T
NM_001232.4(CASQ2):c.737+9G>T
NM_001232.4(CASQ2):c.738-15_738-5del
NM_001232.4(CASQ2):c.738-16T>G
NM_001232.4(CASQ2):c.738-16_738-5del rs56889721
NM_001232.4(CASQ2):c.738-17_738-5del rs56889721
NM_001232.4(CASQ2):c.738-19_738-5del
NM_001232.4(CASQ2):c.738-20T>C
NM_001232.4(CASQ2):c.738-4C>A
NM_001232.4(CASQ2):c.738-6_738-4dup
NM_001232.4(CASQ2):c.738-8T>C
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
NM_001232.4(CASQ2):c.783+13C>G
NM_001232.4(CASQ2):c.783+14A>G
NM_001232.4(CASQ2):c.783+17del
NM_001232.4(CASQ2):c.783+19C>G
NM_001232.4(CASQ2):c.784-11T>C
NM_001232.4(CASQ2):c.784-14_784-12dup
NM_001232.4(CASQ2):c.784-15A>G
NM_001232.4(CASQ2):c.784-18del
NM_001232.4(CASQ2):c.784-19T>G
NM_001232.4(CASQ2):c.784-5T>C rs2101068877
NM_001232.4(CASQ2):c.784-6A>G
NM_001232.4(CASQ2):c.784-7C>T rs2101068879
NM_001232.4(CASQ2):c.784-9C>G rs2101068882
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
NM_001232.4(CASQ2):c.838+10C>A
NM_001232.4(CASQ2):c.838+10C>T
NM_001232.4(CASQ2):c.838+16C>A
NM_001232.4(CASQ2):c.838+18T>A
NM_001232.4(CASQ2):c.838+9C>A
NM_001232.4(CASQ2):c.839-10C>A rs1285000814
NM_001232.4(CASQ2):c.839-18T>A
NM_001232.4(CASQ2):c.839-19C>G
NM_001232.4(CASQ2):c.839-8T>C
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
NM_001232.4(CASQ2):c.858G>A (p.Glu286=)
NM_001232.4(CASQ2):c.861C>T (p.Ile287=) rs143718767
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
NM_001232.4(CASQ2):c.888T>C (p.Thr296=) rs769250369
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
NM_001232.4(CASQ2):c.906C>T (p.Ser302=)
NM_001232.4(CASQ2):c.909C>A (p.Ile303=)
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
NM_001232.4(CASQ2):c.921C>T (p.Asp307=) rs773111521
NM_001232.4(CASQ2):c.939+12C>T
NM_001232.4(CASQ2):c.939+13A>G
NM_001232.4(CASQ2):c.939+19C>A rs370092811
NM_001232.4(CASQ2):c.939+19C>T
NM_001232.4(CASQ2):c.939+20G>A rs1431164488
NM_001232.4(CASQ2):c.939+20G>C
NM_001232.4(CASQ2):c.939+8G>T
NM_001232.4(CASQ2):c.939+9C>T rs2101055914
NM_001232.4(CASQ2):c.940-10G>A
NM_001232.4(CASQ2):c.940-12T>C
NM_001232.4(CASQ2):c.940-12T>G
NM_001232.4(CASQ2):c.940-18A>C
NM_001232.4(CASQ2):c.940-19T>C
NM_001232.4(CASQ2):c.940-7G>T
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
NM_001232.4(CASQ2):c.963T>C (p.Thr321=)
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
NM_001232.4(CASQ2):c.999G>A (p.Val333=)

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