List of variants reported as likely pathogenic for congenital muscular dystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.1010+1G>A	rs908682527	0.00003
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_014254.3(RXYLT1):c.325+1G>T	rs1592838547	0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	rs778603129	0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	rs775713184	0.00001
NM_152490.5(B3GALNT2):c.842-1G>A	rs764784497	0.00001
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)	rs2132800044
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.402_403+2del	rs773670891
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.863_864del (p.Val288fs)	rs1184282261
NM_032237.5(POMK):c.386_387del (p.Leu129fs)	rs2130626422
NM_170707.4(LMNA):c.1381-2A>G	rs267607600

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