List of variants reported as pathogenic for Eichsfeld type congenital muscular dystrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	rs121908185	0.00006
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	rs377215510	0.00002
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)	rs747284477	0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	rs778603129	0.00001
NM_020451.3(SELENON):c.1176del (p.Glu394fs)	rs774283170
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	rs797044621
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	rs1553198611
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)	rs911937146
NM_020451.3(SELENON):c.713dup (p.Asn238fs)	rs368104077
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	rs886041686

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