ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP
NM_024301.5(FKRP):c.1A>G (p.Met1Val)	rs587777223
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	rs104894692
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)	rs104894684

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