ClinVar Miner

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

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Total variants: 18
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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.1186G>A (p.Glu396Lys) rs774919231
NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
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.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg) rs1057518768
NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786
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
NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) rs118192174
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.2(RYR1):c.9850T>C (p.Trp3284Arg) rs1555788577

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