ClinVar Miner

List of variants in gene RYR2 studied for Primary dilated cardiomyopathy

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) rs1572596015
NM_001035.3(RYR2):c.6517G>A (p.Glu2173Lys)

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