ClinVar Miner

List of variants reported as pathogenic for Congenital disorder of glycosylation type 1K by OMIM

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Total variants: 7
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HGVS dbSNP
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.493C>T (p.Arg165Trp) rs151173406
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.434G>A (p.Gly145Asp) rs387906926
NM_019109.4(ALG1):c.450C>G (p.Ser150Arg) rs121908340

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