List of variants in gene RYR1 reported as pathogenic for arthrogryposis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	rs587784379	0.00006
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	rs758247804
NM_000540.3(RYR1):c.14647-15_14649del	rs1599673988
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)	rs1568454672
NM_000540.3(RYR1):c.5618del (p.Glu1873fs)	rs1600783776

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