ClinVar Miner

List of variants in gene RYR2 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 18
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NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His) rs730880197
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653
NM_001035.3(RYR2):c.13276_13278GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter) rs869025515
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala) rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys) rs730880190
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn) rs869025510
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu) rs869025512
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663

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