List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by OMIM

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Total variants: 6

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HGVS	dbSNP
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)	rs367543077
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs)	rs367543070
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	rs367543073
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	rs367543074
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	rs367543076

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