ClinVar Miner

List of variants reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia

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Total variants: 31
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HGVS dbSNP
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu) rs1558393802
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) rs1553454821
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val) rs1558405816
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr) rs1553339084
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.515G>A (p.Gly172Glu) rs1553426678
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp) rs1415931588
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys) rs1553531703
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) rs1558103974
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg) rs1553263875
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)
NM_001232.3(CASQ2):c.235-2A>G rs1060502164
NM_001232.3(CASQ2):c.578_580delinsAC (p.Ile193fs) rs397516643
NM_001232.3(CASQ2):c.940-1G>T rs876657635
NM_006073.4(TRDN):c.1051+1G>A rs535908547
NM_006073.4(TRDN):c.1166-1G>A
NM_006073.4(TRDN):c.232+2T>A rs1554258777
NM_006073.4(TRDN):c.520_550+494del rs1562358749
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277

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