ClinVar Miner

List of variants in gene ADNP, DPM1 studied for Congenital disorder of glycosylation type 1E

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Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_003859.3(DPM1):c.*248T>A rs1020154329 0.00030
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.564-20A>G rs201186989 0.00013
NM_003859.3(DPM1):c.679-8T>A rs764913742 0.00013
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.684A>G (p.Pro228=) rs369538517 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
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.678+9C>T rs749718528 0.00004
NM_003859.3(DPM1):c.*191A>G rs771510447 0.00003
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_003859.3(DPM1):c.494+2T>C rs1478040715 0.00002
NM_003859.3(DPM1):c.494+8C>T rs367586095 0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile) rs938379512 0.00002
NM_003859.3(DPM1):c.726A>G (p.Gly242=) rs772092645 0.00002
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) rs727503905 0.00001
NM_003859.3(DPM1):c.563+15T>C rs1285003493 0.00001
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) rs1324743951 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.678+8A>G rs771147863 0.00001
NM_003859.3(DPM1):c.679-12T>A rs1985048219 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_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NC_000020.11:g.(?_50940845)_(50942146_?)del
NM_003859.3(DPM1):c.*117A>G rs920558366
NM_003859.3(DPM1):c.399-13A>T
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.3(DPM1):c.414T>C (p.Gly138=) rs2123098264
NM_003859.3(DPM1):c.429C>T (p.Val143=)
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.459T>C (p.Gly153=) rs1985885337
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala) rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.490_493del (p.Ile164fs) rs781115721
NM_003859.3(DPM1):c.494+16dup
NM_003859.3(DPM1):c.494+7A>G rs1441485408
NM_003859.3(DPM1):c.494+9A>C rs774832271
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.495-15T>G
NM_003859.3(DPM1):c.495-18G>C
NM_003859.3(DPM1):c.495-1G>T
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.527_533del (p.Leu176fs)
NM_003859.3(DPM1):c.552A>C (p.Thr184=) rs1985668924
NM_003859.3(DPM1):c.564-24AT[3] rs759107587
NM_003859.3(DPM1):c.567A>G (p.Leu189=) rs897083759
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.618C>T (p.Gly206=)
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys) rs1036628226
NM_003859.3(DPM1):c.621C>T (p.Tyr207=) rs1373039485
NM_003859.3(DPM1):c.628del (p.Gln210fs) rs1568757730
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.658T>C (p.Leu220=) rs17855394
NM_003859.3(DPM1):c.669T>C (p.Thr223=) rs561078570
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+18A>C rs2123061147
NM_003859.3(DPM1):c.678+1G>C rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.678+9C>G rs749718528
NM_003859.3(DPM1):c.679-12T>G
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_003859.3(DPM1):c.679-9_679-8dup
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
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.702T>C (p.Arg234=) rs2123056796
NM_003859.3(DPM1):c.706T>C (p.Tyr236His) rs775589720
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003859.3(DPM1):c.768T>C (p.Leu256=)

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