List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	rs543163491	0.00004
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)

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