ClinVar Miner

List of variants reported for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00012

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