ClinVar Miner

List of variants reported as likely 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: 85
Download table as spreadsheet
HGVS dbSNP
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_001004127.3(ALG11):c.44+324T>C rs77505745
NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu) rs185149177
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118
NM_001382.4(DPAGT1):c.918-4G>A rs201656540
NM_001382.4(DPAGT1):c.918-8C>T rs531346717
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002435.3(MPI):c.345+26G>A rs144839533
NM_002633.3(PGM1):c.*130C>T rs2749098
NM_002633.3(PGM1):c.*198C>T rs10909
NM_002633.3(PGM1):c.*22C>T rs8294
NM_002633.3(PGM1):c.*37G>A rs61765314
NM_002633.3(PGM1):c.*93A>C rs4643
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1280+7C>T rs72922610
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.262A>G (p.Ile88Val) rs855314
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728
NM_003859.2(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.2(DPM1):c.339C>T (p.Tyr113=) rs749555898
NM_003859.2(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.2(DPM1):c.40C>T (p.Arg14Trp) rs117175017
NM_003859.2(DPM1):c.679-7_679-6insT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.2(DPM1):c.684A>G (p.Pro228=) rs369538517
NM_003859.2(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.2(DPM1):c.9C>G (p.Ser3=) rs150509150
NM_003863.3(DPM2):c.64A>G (p.Thr22Ala) rs7042788
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720
NM_005216.4(DDOST):c.219G>A (p.Glu73=) rs747449468
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_014908.3(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.3(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820
NM_019109.4(ALG1):c.800G>A (p.Ser267Asn) rs17849848
NM_024079.5(ALG8):c.96-6G>C rs199911532
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.