List of variants reported as uncertain significance for Congenital disorder of glycosylation type 1E by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)	rs117175017	0.00169
NM_003859.3(DPM1):c.*248T>A	rs1020154329	0.00030
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)	rs201392536	0.00029
NM_003859.3(DPM1):c.759A>G (p.Leu253=)	rs769964944	0.00014
NM_003859.3(DPM1):c.*12T>C	rs758875594	0.00008
NM_003859.3(DPM1):c.*159A>G	rs775290919	0.00007
NM_003859.3(DPM1):c.286T>C (p.Leu96=)	rs780244460	0.00006
NM_003859.3(DPM1):c.456A>G (p.Gly152=)	rs370598866	0.00005
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)	rs373944766	0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)	rs754109868	0.00004
NM_003859.3(DPM1):c.*191A>G	rs771510447	0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	rs139624629	0.00003
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)	rs938379512	0.00002
NM_003859.3(DPM1):c.295+7C>T	rs775797102	0.00001
NM_003859.3(DPM1):c.295+8G>A	rs758553918	0.00001
NM_003859.3(DPM1):c.*117A>G	rs920558366
NM_003859.3(DPM1):c.161+10C>T	rs779869066
NM_003859.3(DPM1):c.84G>A (p.Ser28=)	rs16995639

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