List of variants in gene RYR1 reported as uncertain significance for Congenital myopathy with fiber type disproportion

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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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)	rs547608972	0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	rs370966353	0.00026
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)	rs138978909	0.00022
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	rs370634440	0.00013
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)	rs118204421	0.00009
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)	rs146206507	0.00005
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)	rs775112172	0.00005
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)	rs145026307	0.00004
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)	rs144135230	0.00003
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	rs757157750	0.00002
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)	rs774316371	0.00001
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)	rs750324313	0.00001
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)	rs1555793251
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)	rs1972430121
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)	rs1238215145
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)	rs1973350586
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)	rs1973365556
NM_000540.3(RYR1):c.13746+4C>G	rs1973676634
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)	rs1974036074
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)	rs765088913

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