ClinVar Miner

List of variants in gene RYR1 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 11
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HGVS dbSNP
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2575C>T (p.Gln859Ter) rs1555770968
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895

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