ClinVar Miner

List of variants in gene ALG1 reported as likely pathogenic for Congenital disorder of glycosylation type 1K

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Total variants: 10
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NM_001330504.1(ALG1):c.319C>T (p.Pro107Ser) rs528261173
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
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.530-2A>G rs768733117
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.854+3A>G rs369160589
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)

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