ClinVar Miner

List of variants in gene POMT2 studied for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398

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