ClinVar Miner

List of variants reported for PMM2-congenital disorder of glycosylation by Institute of Human Genetics, Heidelberg University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238

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