ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 13
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HGVS dbSNP
NM_000540.2(RYR1):c.10619A>G (p.Tyr3540Cys) rs752477271
NM_000540.2(RYR1):c.12188T>C (p.Met4063Thr) rs777285788
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14802G>C (p.Gln4934His) rs1555805334
NM_000540.2(RYR1):c.1874T>C (p.Leu625Pro) rs1555769513
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.3619G>A (p.Val1207Met) rs760235443
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232
NM_000540.2(RYR1):c.9623C>T (p.Pro3208Leu)

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