ClinVar Miner

List of variants in gene ALG12 studied for ALG12-congenital disorder of glycosylation

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP
NC_000022.11:g.(?_49903818)_(49907964_?)del
NM_024105.4(ALG12):c.*131C>A
NM_024105.4(ALG12):c.*1G>C rs138804791
NM_024105.4(ALG12):c.*209C>T rs757403591
NM_024105.4(ALG12):c.*240G>A rs76848348
NM_024105.4(ALG12):c.*250C>T
NM_024105.4(ALG12):c.*276T>G rs760147302
NM_024105.4(ALG12):c.*280G>A rs116765369
NM_024105.4(ALG12):c.*33C>T
NM_024105.4(ALG12):c.*354G>A rs769523769
NM_024105.4(ALG12):c.*363G>A
NM_024105.4(ALG12):c.*393C>T
NM_024105.4(ALG12):c.*475G>A rs186563620
NM_024105.4(ALG12):c.*484C>A
NM_024105.4(ALG12):c.*486C>A
NM_024105.4(ALG12):c.*51A>G rs1321
NM_024105.4(ALG12):c.-141T>C rs9616378
NM_024105.4(ALG12):c.-203G>A rs9616379
NM_024105.4(ALG12):c.-203G>C
NM_024105.4(ALG12):c.-231T>G rs886057617
NM_024105.4(ALG12):c.-43C>T rs886057615
NM_024105.4(ALG12):c.-74C>T rs182520339
NM_024105.4(ALG12):c.-76T>C
NM_024105.4(ALG12):c.-79+3C>T rs886057616
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419
NM_024105.4(ALG12):c.1158G>C (p.Gln386His)
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln)
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.1449G>A (p.Arg483=) rs886057613
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
NM_024105.4(ALG12):c.163-4G>A
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg)
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046
NM_024105.4(ALG12):c.295+1G>A
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211
NM_024105.4(ALG12):c.469+13C>T rs78916708
NM_024105.4(ALG12):c.469+14G>A rs76905919
NM_024105.4(ALG12):c.469+4C>T rs555319649
NM_024105.4(ALG12):c.470-11C>T rs375328311
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
NM_024105.4(ALG12):c.48G>A (p.Leu16=)
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln)
NM_024105.4(ALG12):c.616G>A (p.Val206Ile)
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225
NM_024105.4(ALG12):c.664+12A>G rs9616204
NM_024105.4(ALG12):c.664+9G>C rs9616368
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124
NM_024105.4(ALG12):c.714G>A (p.Pro238=)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291
NM_024105.4(ALG12):c.867C>T (p.His289=) rs147801200
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser)
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654

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.