ClinVar Miner

List of variants studied 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: 6
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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.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)

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