ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

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Total variants: 1
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821

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