List of variants in gene RYR1 reported as likely pathogenic by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)	rs2514074117
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)	rs193922809

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