List of variants in gene RYR1 reported as likely benign for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)	rs2960319	0.01964
NM_000540.3(RYR1):c.12012+19T>C	rs181590606	0.01243
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)	rs151313865	0.00691
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)	rs73933023	0.00601
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)	rs587784372	0.00471
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)	rs116591968	0.00404
NM_000540.3(RYR1):c.425-19A>G	rs193169917	0.00289
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)	rs141317474	0.00246
NM_000540.3(RYR1):c.297G>A (p.Thr99=)	rs144241486	0.00186
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	rs144157950	0.00165
NM_000540.3(RYR1):c.11141+7A>G	rs78350770	0.00140
NM_000540.3(RYR1):c.7836-19C>T	rs201378267	0.00090
NM_000540.3(RYR1):c.14130-9T>G	rs191894192	0.00088
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	rs113058779	0.00057
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)	rs767496164	0.00007
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=)	rs141542477	0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=)	rs369456396	0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=)	rs749322590	0.00006
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	rs750757411	0.00004
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=)	rs199698011	0.00003
NM_000540.3(RYR1):c.1925+19G>A	rs764074598	0.00003
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)	rs201296563	0.00002
NM_000540.3(RYR1):c.2787-16A>G	rs998030731	0.00002
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)	rs193922849	0.00001
NM_000540.3(RYR1):c.15022-14A>G	rs1355487795	0.00001
NM_000540.3(RYR1):c.2931G>A (p.Thr977=)	rs771471004	0.00001
NM_000540.3(RYR1):c.46-5C>T	rs774388278	0.00001
NM_000540.3(RYR1):c.12013-18C>A	rs377516769
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)	rs1184700540
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	rs150396398
NM_000540.3(RYR1):c.46-4G>A	rs201094741
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=)	rs1193082244
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)	rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=)	rs76854339

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