ClinVar Miner

List of variants studied for ventricular tachycardia, familial by GeneReviews

Included ClinVar conditions (16):
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.12602A>G (p.Gln4201Arg) rs121918605
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.6982C>T (p.Pro2328Ser) rs121918603
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg) rs886039816
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277

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