ClinVar Miner

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

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Total variants: 61
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HGVS dbSNP gnomAD frequency
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.385C>A (p.Pro129Thr) rs752831768 0.00022
NM_003859.3(DPM1):c.357T>C (p.Ala119=) rs371895653 0.00021
NM_003859.3(DPM1):c.261T>A (p.Ile87=) rs774440510 0.00007
NM_003859.3(DPM1):c.261+8A>G rs369077586 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003859.3(DPM1):c.171C>T (p.Asn57=) rs755192460 0.00003
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln) rs1324570980 0.00003
NM_003859.3(DPM1):c.296-10T>C rs765027931 0.00002
NM_003859.3(DPM1):c.162-17A>G rs376823531 0.00001
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.219T>C (p.Asp73=) rs753295960 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.339C>T (p.Tyr113=) rs749555898 0.00001
NM_003859.3(DPM1):c.373-11T>C rs750138754 0.00001
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NM_003859.3(DPM1):c.162-3del rs1568774485
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.173_174del (p.Asn57_Tyr58insTer) rs1350257432
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe) rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.182del (p.Ile61fs)
NM_003859.3(DPM1):c.232T>C (p.Leu78=) rs1986765330
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.262-19C>A
NM_003859.3(DPM1):c.262-19C>T
NM_003859.3(DPM1):c.262-9T>C rs759423847
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
NM_003859.3(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.295+8G>C rs758553918
NM_003859.3(DPM1):c.296-14A>C
NM_003859.3(DPM1):c.296-5T>C rs1986258168
NM_003859.3(DPM1):c.296-9C>A rs1986258505
NM_003859.3(DPM1):c.296-9C>G rs1986258505
NM_003859.3(DPM1):c.303A>G (p.Ala101=) rs139211110
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
NM_003859.3(DPM1):c.326C>T (p.Ala109Val) rs1986256273
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn) rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr) rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.371A>G (p.His124Arg) rs2123115725
NM_003859.3(DPM1):c.372+12G>A
NM_003859.3(DPM1):c.373-5T>A rs587777115
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser) rs752831768
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.398+20T>C

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