ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.424+2T>C rs775192689

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