List of variants in gene RYR1 reported as uncertain significance for Centronuclear myopathy

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00107
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)	rs398123471	0.00001
NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)	rs1971573489
NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)	rs764204531

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