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: 7
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HGVS dbSNP
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.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786
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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