List of variants reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1 by Blueprint Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)	rs180843436	0.00005
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)	rs730880191	0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His)	rs727503396	0.00001
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys)	rs587782975
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	rs730880196
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)	rs730880201
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	rs730880187
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756
NM_001232.4(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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