List of variants reported as uncertain significance for Congenital disorder of glycosylation type 1E

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 117

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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.19A>G (p.Ser7Gly)	rs147804856	0.00034
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.385C>A (p.Pro129Thr)	rs752831768	0.00022
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)	rs146262101	0.00016
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.20G>A (p.Ser7Asn)	rs776145598	0.00008
NM_003859.3(DPM1):c.*159A>G	rs775290919	0.00007
NM_003859.3(DPM1):c.261T>A (p.Ile87=)	rs774440510	0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)	rs559946698	0.00007
NM_003859.3(DPM1):c.286T>C (p.Leu96=)	rs780244460	0.00006
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)	rs148674319	0.00006
NM_003859.3(DPM1):c.456A>G (p.Gly152=)	rs370598866	0.00005
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)	rs146935617	0.00004
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)	rs373944766	0.00004
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)	rs754001081	0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)	rs754109868	0.00004
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)	rs376257244	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.275G>A (p.Arg92Gln)	rs1324570980	0.00003
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)	rs369939483	0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)	rs938379512	0.00002
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)	rs562769511	0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)	rs1986767219	0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)	rs750927313	0.00001
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.35G>T (p.Arg12Met)	rs559291357	0.00001
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)	rs761143591	0.00001
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)	rs727503905	0.00001
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)	rs11553474	0.00001
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)	rs747972169	0.00001
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)	rs769390268	0.00001
NM_003859.3(DPM1):c.675C>T (p.Gly225=)	rs1414447653	0.00001
NM_003859.3(DPM1):c.678+4T>G	rs948892336	0.00001
NM_003859.3(DPM1):c.701G>A (p.Arg234His)	rs760322056	0.00001
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)	rs1205339617	0.00001
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)	rs773403940	0.00001
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)	rs748394583	0.00001
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NM_003859.3(DPM1):c.*117A>G	rs920558366
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)	rs369939483
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)	rs767978019
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)	rs2123155224
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)	rs769480044
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
NM_003859.3(DPM1):c.142G>A (p.Val48Met)	rs776470942
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
NM_003859.3(DPM1):c.161+10C>T	rs779869066
NM_003859.3(DPM1):c.162-3del	rs1568774485
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)	rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)	rs1040795570
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)	rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)	rs201392536
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)	rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)	rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)	rs1986763754
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)	rs17850343
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.296-5T>C	rs1986258168
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)	rs755912457
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)	rs1986256273
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)	rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)	rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)	rs559291357
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)	rs752831768
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)	rs1225648834
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)	rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)	rs547949792
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)	rs1985671191
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)	rs1601016907
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)	rs528582693
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)	rs760063295
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)	rs1036628226
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)	rs1439856985
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	rs1197456861
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)	rs2123061416
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)	rs2123061350
NM_003859.3(DPM1):c.678+15C>G	rs2123061176
NM_003859.3(DPM1):c.678+1G>C	rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)	rs1985042327
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)	rs2123056867
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)	rs1411036424
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)	rs775589720
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)	rs1986960670
NM_003859.3(DPM1):c.84G>A (p.Ser28=)	rs16995639
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)

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