ClinVar Miner

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

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Total variants: 13
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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.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.2(RYR1):c.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786
NM_000540.2(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
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
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266

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