List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	rs770711331	0.00002
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	rs104894681	0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	rs752582904	0.00001
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	rs1599939853
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	rs1555738753

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