ClinVar Miner

List of variants studied for catecholaminergic polymorphic ventricular tachycardia 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.*632G>C rs1140238 0.65651
NM_001232.4(CASQ2):c.*482C>T rs7521023 0.63558
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001232.4(CASQ2):c.-21G>A rs12067472 0.01521
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.*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.*143G>A rs28730709 0.00217
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_001232.3(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_001232.3(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.533-6C>T rs545407254 0.00013
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.898G>A (p.Asp300Asn) rs376147306 0.00009
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.270C>A (p.Gly90=) rs72554056 0.00006
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.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 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.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr) rs747847223 0.00001
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) rs1373884863 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.846C>T (p.Tyr282=) rs764692110 0.00001
NM_001232.3(CASQ2):c.-226C>G rs72703672
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-105A>G rs886045161
NM_001232.4(CASQ2):c.1014+3G>A rs1654250763
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.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly) rs72703607

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.