ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 by OMIM

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Total variants: 2
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HGVS dbSNP
NM_001165928.3(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_001165928.3(DAG1):c.743del (p.Ala248fs) rs869320680

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