List of variants studied for congenital myopathy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)	rs140743001	0.00001
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)	rs1555806119
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)	rs2154135490
NM_001267550.2(TTN):c.18001C>T (p.Gln6001Ter)	rs765081807
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)	rs1553754743
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)	rs1553703310
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)	rs1218695159
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)	rs1553659902
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	rs1553636324
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)	rs2154176072
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)	rs1553603152
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)	rs1553565316
NM_001267550.2(TTN):c.94371del (p.Glu31458fs)	rs1553524807
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)

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