ClinVar Miner

List of variants in gene combination ADNP, DPM1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
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.*12T>C rs758875594 0.00008
NM_003859.3(DPM1):c.*159A>G rs775290919 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.*191A>G rs771510447 0.00003
NM_003859.3(DPM1):c.622G>A (p.Val208Ile) rs938379512 0.00002
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) rs727503905 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
NM_003859.3(DPM1):c.*117A>G rs920558366
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.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.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.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

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