ClinVar Miner

List of variants reported as benign for Congenital disorder of glycosylation type 1E by Invitae

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_003859.3(DPM1):c.296-12T>C rs200030885 0.00143
NM_003859.3(DPM1):c.398+13T>C rs201703497 0.00140
NM_003859.3(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542

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