List of variants reported as pathogenic for congenital muscular dystrophy by Genetic Services Laboratory, University of Chicago

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_173660.5(DOK7):c.596del (p.Ile199fs)	rs797045528	0.00001
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)	rs1554371369
NM_002206.3(ITGA7):c.1088dup (p.His364fs)	rs587780362
NM_017739.4(POMGNT1):c.1413+1G>C	rs587777821
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)	rs1553618354
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)	rs1553850100
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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