List of variants reported as likely pathogenic for congenital muscular dystrophy by Center for Genetic Medicine Research, Children's National Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	rs200198778	0.00010
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)	rs878854362
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)	rs878854379
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]

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