ClinVar Miner

List of variants reported as uncertain significance 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: 75
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HGVS dbSNP gnomAD frequency
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp) rs142385356 0.00184
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00006
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) rs1393282696 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly) rs766042717 0.00003
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) rs893706862 0.00001
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) rs750430228
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) rs373046727
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser) rs1985671191
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) rs1388629959
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_014908.4(DOLK):c.-15C>T rs1272594617
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) rs1719786702
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg) rs1956094478
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
NM_033087.4(ALG2):c.1064A>G (p.His355Arg) rs1246812091
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) rs1939729667

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