ClinVar Miner

List of variants in gene MPDU1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
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.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.*105G>A rs190574792 0.00023
NM_004870.4(MPDU1):c.450C>T (p.Pro150=) rs145983820 0.00007
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.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.*135C>G rs780090441 0.00001
NM_004870.4(MPDU1):c.*399G>C rs1289297756 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.218G>A (p.Gly73Glu) rs104894586 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.599G>A (p.Arg200Gln) rs200077070 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 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.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
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.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) rs2150936424
NM_004870.4(MPDU1):c.729G>C (p.Gln243His) rs144333176
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)

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