ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NC_000001.10:g.(?_63862174)_(63862278_?)del
NC_000016.9:g.(?_8873316)_(8941702_?)del
NC_000016.9:g.(?_8891730)_(8906973_?)del
NC_000016.9:g.(?_8898599)_(8906983_?)del
NC_000020.10:g.(?_49551401)_(49575111_?)del
NM_000303.3(PMM2):c.-167G>T
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
NM_000303.3(PMM2):c.55del (p.Ala19fs)
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
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.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
NM_003859.2(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.2(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.999dup (p.Leu334fs)
NM_019109.4(ALG1):c.1063del (p.Leu355fs)
NM_019109.4(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074
NM_019109.4(ALG1):c.304C>T (p.Gln102Ter) rs780107088
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_138459.5(NUS1):c.99dup (p.Asn34fs)

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