ClinVar Miner

List of variants reported as likely pathogenic for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7

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Total variants: 4
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HGVS dbSNP
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NM_001101426.3(CRPPA):c.258-1G>C rs767978961
NM_001101426.3(CRPPA):c.835+2T>C

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