ClinVar Miner

List of variants in gene RYR1 reported by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr) rs1057519258

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