ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Natera, Inc.

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
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.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_002435.3(MPI):c.977C>G (p.Pro326Arg) rs199956743 0.00014
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00011
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00008
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00008
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu) rs773699560 0.00007
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.390C>T (p.Pro130=) rs140961968 0.00006
NM_002435.3(MPI):c.708G>A (p.Glu236=) rs530537706 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.816+10A>T rs529032571 0.00006
NM_000303.3(PMM2):c.524-5G>A rs373584132 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.699G>A (p.Ala233=) rs375881270 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.69C>T (p.Ser23=) rs140124850 0.00003
NM_013339.4(ALG6):c.1308C>T (p.Ser436=) rs1271255207 0.00003
NM_013339.4(ALG6):c.881G>A (p.Arg294His) rs772248256 0.00003
NM_013339.4(ALG6):c.902+1G>A rs1036516188 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.178+1G>A rs935962174 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.680T>C (p.Met227Thr) rs772410793 0.00002
NM_002435.3(MPI):c.1233G>A (p.Pro411=) rs746867428 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002435.3(MPI):c.739G>A (p.Gly247Ser) rs557366025 0.00002
NM_013339.4(ALG6):c.54A>G (p.Arg18=) rs373800951 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 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.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) rs774532663 0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) rs781346472 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_002435.3(MPI):c.1122G>C (p.Gln374His) rs753458883 0.00001
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser) rs769768397 0.00001
NM_002435.3(MPI):c.1242G>A (p.Leu414=) rs780975089 0.00001
NM_002435.3(MPI):c.285C>T (p.Pro95=) rs1001297444 0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met) rs781158335 0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr) rs201676072 0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.1365G>A (p.Leu455=) rs772957444 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) rs1407217511 0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr) rs878890161 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) rs2060588870
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
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.93C>T (p.Phe31=) rs61730638
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.455G>C (p.Arg152Pro) rs766458792
NM_002435.3(MPI):c.527C>T (p.Ala176Val) rs1256364766
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.672G>C (p.Ala224=) rs768186349
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.781A>G (p.Thr261Ala) rs2064816825
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516
NM_013339.4(ALG6):c.346+7G>C rs1159085775
NM_013339.4(ALG6):c.448A>G (p.Ile150Val) rs571644669
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly) rs1644514646
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.82_82+8del rs1424742651

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