List of variants reported as pathogenic for congenital myopathy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001267550.2(TTN):c.2370+2T>C	rs1574817395
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)	rs1200988060
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)	rs1574724863
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs)	rs1574942920
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)	rs1582196903

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