ClinVar Miner

List of variants reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia type 1

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Total variants: 19
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HGVS dbSNP
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13737C>A (p.His4579Gln) rs886037907
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del)
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) rs886037908
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001232.3(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277

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