ClinVar Miner

List of variants reported as pathogenic for PMM2-congenital disorder of glycosylation by Research Laboratories, P. D. Hinduja Hospital & MRC

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525

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