List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg)	rs267607209	0.00001
LARGE1, GLN87FS
NG_009929.2:g.523149_586240del
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)	rs761071115
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe)	rs267607210

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