ClinVar Miner

List of variants in gene ALG1 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001330504.1(ALG1):c.-30C>T rs780107088
NM_001330504.1(ALG1):c.271G>T (p.Asp91Tyr)
NM_001330504.1(ALG1):c.319C>T (p.Pro107Ser) rs528261173
NM_001330504.1(ALG1):c.433G>A (p.Glu145Lys)
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.467G>A (p.Ser156Asn) rs17849848
NM_001330504.1(ALG1):c.493C>T (p.Arg165Trp) rs151173406
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001330504.1(ALG1):c.507G>C (p.Leu169=) rs12921879
NM_001330504.1(ALG1):c.530-2A>G
NM_001330504.1(ALG1):c.543C>G (p.Phe181Leu) rs1009298200
NM_001330504.1(ALG1):c.544T>C (p.Ser182Pro) rs1555452127
NM_001330504.1(ALG1):c.547A>C (p.Ile183Leu)
NM_001330504.1(ALG1):c.803T>G (p.Val268Gly) rs1555452573
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001330504.1(ALG1):c.917_918insTG (p.Ala307fs) rs746019074
NM_019109.4(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.4(ALG1):c.1129A>G (p.Met377Val) rs387906925
NM_019109.4(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.4(ALG1):c.450C>G (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.1063del (p.Leu355fs)

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