ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 9
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HGVS dbSNP
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495
NM_000540.2(RYR1):c.1264G>A (p.Gly422Arg) rs757157750
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr) rs1057518924
NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg) rs1057518768
NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) rs370966353
NM_000540.2(RYR1):c.4236C>G (p.His1412Gln) rs146206507
NM_000540.2(RYR1):c.5000G>A (p.Arg1667His) rs138978909

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