ClinVar Miner

List of variants studied for ALG12-congenital disorder of glycosylation by Illumina Clinical Services Laboratory,Illumina

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Total variants: 71
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HGVS dbSNP
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.1029G>A (p.Ala343=) rs62233155
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.1244A>G (p.Asp415Gly) rs201717237
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.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.189C>T (p.Val63=) rs190345740
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046
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.401C>T (p.Thr134Met) rs201405631
NM_024105.4(ALG12):c.469+13C>T rs78916708
NM_024105.4(ALG12):c.469+14G>A rs76905919
NM_024105.4(ALG12):c.470-11C>T rs375328311
NM_024105.4(ALG12):c.470-12A>T rs191669043
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.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.645G>A (p.Pro215=) rs12167668
NM_024105.4(ALG12):c.664+12A>G rs9616204
NM_024105.4(ALG12):c.664+9G>C rs9616368
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.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.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

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