List of variants reported as likely pathogenic for MPI-congenital disorder of glycosylation

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		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00021
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	rs104894494	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002435.3(MPI):c.487+2del	rs1057516550	0.00002
NM_002435.3(MPI):c.1253G>A (p.Arg418His)	rs863225087	0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.145-1G>C	rs1057516573	0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)	rs757168691	0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)	rs978284448	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	rs1057516424	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NC_000015.9:g.(?_75188483)_(75190081_?)del
NM_002435.3(MPI):c.-1_3del (p.Met1fs)	rs1555478015
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)	rs2141208628
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs)	rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs)	rs1555479441
NM_002435.3(MPI):c.1054del	rs752976348
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu)	rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
NM_002435.3(MPI):c.120del (p.Ile40fs)	rs1057516466
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.145-1G>A	rs1057516573
NM_002435.3(MPI):c.15_16+5del	rs2141194911
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.169G>A (p.Gly57Arg)	rs1225376562
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.199dup (p.Ser67fs)
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
NM_002435.3(MPI):c.319del (p.Leu107fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)	rs1661886822
NM_002435.3(MPI):c.345+1G>A	rs1555478333
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
NM_002435.3(MPI):c.413T>C (p.Met138Thr)	rs104894495
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
NM_002435.3(MPI):c.432del (p.Phe145fs)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002435.3(MPI):c.487+1G>A
NM_002435.3(MPI):c.488-1G>A	rs759579169
NM_002435.3(MPI):c.497_498del (p.Glu166fs)	rs2141200280
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)	rs1555478582
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.629del (p.Val210fs)	rs1555478606
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs)	rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)	rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs)	rs1057517115
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)	rs1595822583
NM_002435.3(MPI):c.802_803del (p.Met268fs)	rs1555479227
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+1G>A	rs1394866894
NM_002435.3(MPI):c.844+2T>C
NM_002435.3(MPI):c.844+2T>G	rs2141206921
NM_002435.3(MPI):c.845-2A>G	rs2064828055
NM_002435.3(MPI):c.845-2del	rs1555479341
NM_002435.3(MPI):c.84_88del (p.Arg29fs)	rs753839890
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002435.3(MPI):c.89_113del (p.Leu30fs)	rs1555478118
NM_002435.3(MPI):c.973del (p.Leu325fs)

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