ClinVar Miner

List of variants reported as pathogenic for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (3):

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1006+1G>A	rs533916138	0.00003
NM_013382.7(POMT2):c.924-2A>C	rs886044256

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