ClinVar Miner

List of variants in gene ALG11, UTP14C studied for ALG11-CDG

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP
NM_001004127.3(ALG11):c.*1049C>T rs3742291
NM_001004127.3(ALG11):c.*148A>T rs771744248
NM_001004127.3(ALG11):c.*173G>A
NM_001004127.3(ALG11):c.*193A>C rs3825528
NM_001004127.3(ALG11):c.*22G>T
NM_001004127.3(ALG11):c.*277G>T rs775998263
NM_001004127.3(ALG11):c.*297G>A rs886050314
NM_001004127.3(ALG11):c.*386C>T
NM_001004127.3(ALG11):c.*406T>C rs137988059
NM_001004127.3(ALG11):c.*468G>T rs3742289
NM_001004127.3(ALG11):c.*490C>T
NM_001004127.3(ALG11):c.*491G>A
NM_001004127.3(ALG11):c.*515A>G rs3742290
NM_001004127.3(ALG11):c.*540T>A
NM_001004127.3(ALG11):c.*684T>G
NM_001004127.3(ALG11):c.*754A>C
NM_001004127.3(ALG11):c.*789A>G
NM_001004127.3(ALG11):c.*953A>G rs144970453
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) rs147711581
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) rs886050313
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) rs387907183
NM_001004127.3(ALG11):c.1208-6T>C rs200751186
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala)
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) rs1064795803
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339

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