List of variants reported as likely pathogenic for congenital myopathy by Pediatric Department, Peking University First Hospital

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	rs864309559	0.00003
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr)	rs1165213387	0.00001
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)	rs1220780685	0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)	rs756847750	0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln)	rs1319877486	0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)	rs756331568	0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)	rs758210285	0.00001
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)	rs538497899
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)	rs1568593984
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)	rs118192146
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His)	rs2145912840
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)	rs2145917373
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)	rs776252106
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro)	rs1600706153
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)	rs1968540857
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)	rs1317036540
NM_003283.6(TNNT1):c.1A>G (p.Met1Val)	rs2085575423

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