ClinVar Miner

List of variants in gene ALG9 reported as pathogenic for ALG9 congenital disorder of glycosylation

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023 0.00004
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
ALG9, GLU359LYS
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro) rs2136827755
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118

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