ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation type I by Baylor Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser) rs780581250 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) rs2060637616
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) rs151319324
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722

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.