ClinVar Miner

List of variants in gene RYR1 studied for Congenital myopathy

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Total variants: 8
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HGVS dbSNP
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.14468C>T (p.Thr4823Met) rs148540135
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) rs147336515
NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys) rs150993059
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634

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