ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.5995del (p.Arg1999fs) rs1600787461
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962

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