ClinVar Miner

List of variants reported as benign for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_001004127.2(ALG11):c.-674A>G rs28362532
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091
NM_001099922.3(ALG13):c.2248-4A>G rs370438099
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102
NM_001099922.3(ALG13):c.384-5C>T rs763318921
NM_001382.4(DPAGT1):c.729-4A>C rs199873583
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741
NM_002435.3(MPI):c.345+15G>A rs11638130
NM_002435.3(MPI):c.345+16C>T rs143242949
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257
NM_002633.3(PGM1):c.1280+7C>T rs72922610
NM_002633.3(PGM1):c.1464+14G>T rs2269238
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842
NM_003859.2(DPM1):c.679-7A>T rs60224379
NM_003859.2(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.2(DPM1):c.84G>C (p.Ser28=) rs16995639
NM_003863.3(DPM2):c.177C>T (p.Leu59=) rs35334863
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_003863.3(DPM2):c.213T>C (p.Tyr71=) rs6781
NM_003863.3(DPM2):c.227C>G (p.Thr76Ser) rs7997
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816
NM_005216.4(DDOST):c.827C>T (p.Ala276Val) rs138061134
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_014908.3(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_019109.4(ALG1):c.334A>C (p.Met112Leu) rs113219939
NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) rs112668461
NM_019109.4(ALG1):c.800G>A (p.Ser267Asn) rs17849848
NM_019109.4(ALG1):c.840G>C (p.Leu280=) rs12921879
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760
NM_024740.2(ALG9):c.406-7C>T rs45574638
NM_033087.4(ALG2):c.129C>G (p.Arg43=) rs35055733
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.288C>T (p.Phe96=) rs542863968
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522
NM_178862.3(STT3B):c.777+7T>G rs76400963

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