ClinVar Miner

List of variants studied for MPDU1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004870.4(MPDU1):c.*308G>T rs4227 0.67099
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_004870.4(MPDU1):c.*462C>T rs545206972 0.00524
NM_004870.4(MPDU1):c.618+14C>T rs11078699 0.00407
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) rs147742866 0.00227
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met) rs141320993 0.00034
NM_004870.4(MPDU1):c.537C>T (p.Asn179=) rs149675859 0.00029
NM_004870.4(MPDU1):c.*105G>A rs190574792 0.00023
NM_004870.4(MPDU1):c.450C>T (p.Pro150=) rs145983820 0.00007
NM_004870.4(MPDU1):c.636G>C (p.Leu212=) rs148586387 0.00007
NM_004870.4(MPDU1):c.12G>A (p.Glu4=) rs146631664 0.00006
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr) rs200909635 0.00004
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) rs104894588 0.00004
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg) rs775877177 0.00004
NM_004870.4(MPDU1):c.*255A>G rs878936939 0.00003
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.619-2A>G rs368123972 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.672C>T (p.Asn224=) rs535356783 0.00002
NM_004870.4(MPDU1):c.*135C>G rs780090441 0.00001
NM_004870.4(MPDU1):c.*399G>C rs1289297756 0.00001
NM_004870.4(MPDU1):c.*652C>T rs554187980 0.00001
NM_004870.4(MPDU1):c.103+19C>T rs1320410758 0.00001
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys) rs772047932 0.00001
NM_004870.4(MPDU1):c.184G>A (p.Val62Met) rs777819415 0.00001
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) rs104894589 0.00001
NM_004870.4(MPDU1):c.303-16A>G rs566030367 0.00001
NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu) rs775584076 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter) rs999384296 0.00001
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln) rs200077070 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 0.00001
NM_004870.4(MPDU1):c.648C>T (p.Thr216=) rs760109502 0.00001
NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln) rs1029176907 0.00001
NM_004870.4(MPDU1):c.735G>A (p.Lys245=) rs750023688 0.00001
NM_004870.4(MPDU1):c.84T>C (p.Val28=) rs1430454810 0.00001
NM_004870.4(MPDU1):c.*27C>T rs374857107
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro) rs1452719895
NM_004870.4(MPDU1):c.170-1G>A
NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu) rs750579485
NM_004870.4(MPDU1):c.193del (p.Ile65fs)
NM_004870.4(MPDU1):c.303-9A>G rs763924892
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) rs104894587
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_004870.4(MPDU1):c.388+17del
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) rs137983973
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.508-9C>T rs867359652
NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser) rs2071537142
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu) rs2071599921
NM_004870.4(MPDU1):c.582T>C (p.Phe194=) rs763418089
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.591C>G (p.Ser197=) rs2150936245
NM_004870.4(MPDU1):c.619-17C>G
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) rs2150936424
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) rs1388629959
NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer) rs2150933483
NM_004870.4(MPDU1):c.729G>C (p.Gln243His) rs144333176
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.