List of variants studied for congenital muscular dystrophy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*5G>A	rs377195134	0.00026
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)	rs746638187	0.00005
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)	rs1574724863
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs)	rs1574942920
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)	rs542283928
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)	rs1582196903
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)	rs886043030

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