ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

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Total variants: 4

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HGVS	dbSNP
NM_152490.5(B3GALNT2):c.1311+1G>C	rs0
NM_152490.5(B3GALNT2):c.652-2A>G	rs1553347936
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274
NM_152490.5(B3GALNT2):c.842-1G>C	rs764784497

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