ClinVar Miner

List of variants in gene RYR2 studied for cardiac conduction defect

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) rs1553341966
NM_001035.3(RYR2):c.243G>A (p.Met81Ile) rs1572627115
NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) rs1688456281

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