ClinVar Miner

List of variants reported as uncertain significance for ALG12-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00212
NM_024105.4(ALG12):c.*1G>C rs138804791 0.00205
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00169
NM_024105.4(ALG12):c.*363G>A rs568473076 0.00144
NM_024105.4(ALG12):c.*393C>T rs550904403 0.00114
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00041
NM_024105.4(ALG12):c.*475G>A rs186563620 0.00030
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024105.4(ALG12):c.*33C>T rs531771418 0.00013
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_024105.4(ALG12):c.1158G>C (p.Gln386His) rs372390738 0.00010
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024105.4(ALG12):c.714G>A (p.Pro238=) rs760973218 0.00009
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237 0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln) rs148062469 0.00006
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00006
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_024105.4(ALG12):c.-76T>C rs546115000 0.00005
NM_024105.4(ALG12):c.*209C>T rs757403591 0.00004
NM_024105.4(ALG12):c.-74C>T rs182520339 0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589 0.00004
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631 0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940 0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser) rs199937362 0.00003
NM_024105.4(ALG12):c.*276T>G rs760147302 0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024105.4(ALG12):c.*354G>A rs769523769 0.00001
NM_024105.4(ALG12):c.-79+3C>T rs886057616 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.1449G>A (p.Arg483=) rs886057613 0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614 0.00001
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.*131C>A rs2060526664
NM_024105.4(ALG12):c.*250C>T rs1329225644
NM_024105.4(ALG12):c.*484C>A rs77163946
NM_024105.4(ALG12):c.*486C>A rs1324817015
NM_024105.4(ALG12):c.-203G>C rs9616379
NM_024105.4(ALG12):c.-231T>G rs886057617
NM_024105.4(ALG12):c.-43C>T rs886057615
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.616G>A (p.Val206Ile) rs534212642
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935

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