ClinVar Miner

List of variants studied for catecholaminergic polymorphic ventricular tachycardia 1 by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) rs121918601
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598

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