ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by Ambry Genetics

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Total variants: 5
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HGVS dbSNP
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup) rs1555801872
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074

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