ClinVar Miner

List of variants in gene FKRP reported as likely pathogenic for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

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Total variants: 2
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NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)

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