ClinVar Miner

List of variants reported as benign for PMM2-congenital disorder of glycosylation by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.*175G>A rs2072688 0.26303
NM_000303.3(PMM2):c.*136A>C rs2075827 0.24978
NM_000303.3(PMM2):c.66+209C>T rs9939787 0.17150
NM_000303.3(PMM2):c.639+62C>T rs3743807 0.15368
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_000303.3(PMM2):c.447+19T>C rs11074924

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