List of variants in gene RYR1 reported as likely benign by ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)	rs146504767	0.00101
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)	rs142474192	0.00010
NM_000540.3(RYR1):c.14168G>A (p.Arg4723His)	rs200766617	0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)	rs199870223	0.00007
NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu)	rs376149732	0.00002
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)	rs193922849	0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)	rs749040743	0.00001
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)	rs118192126
NM_000540.3(RYR1):c.12310G>C (p.Gly4104Arg)	rs769120898
NM_000540.3(RYR1):c.14510del (p.Gln4837fs)	rs193922877
NM_000540.3(RYR1):c.7816T>A (p.Cys2606Ser)	rs748575133

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