ClinVar Miner

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2

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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.162_165dup (p.Phe56fs)	rs886042506

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