List of variants in gene RYR1 studied for Central core myopathy; Malignant hyperthermia, susceptibility to, 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	rs112563513	0.00001
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala)	rs1568469574
NM_000540.3(RYR1):c.4490G>A (p.Gly1497Glu)
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.7836-1G>A	rs1568507354

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