ClinVar Miner

List of variants reported for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014254.3(RXYLT1):c.760G>A (p.Val254Met) rs752782101 0.00003
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117

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