ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Counsyl

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212 0.00003
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174 0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724

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