ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic for Myopathy, Central Core

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Total variants: 20
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HGVS dbSNP
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.2(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.2(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000540.2(RYR1):c.2290C>T
NM_000540.2(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.2(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000540.2(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.2(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]

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