ClinVar Miner

List of variants in gene combination ALG1, LOC130058383 reported as likely benign for ALG1-congenital disorder of glycosylation

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.5071885T>C rs369180139 0.00010
NM_019109.5(ALG1):c.75C>G (p.Arg25=) rs369610043 0.00001
NM_019109.5(ALG1):c.25C>T (p.Leu9=) rs771370322
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
NM_019109.5(ALG1):c.37C>T (p.Leu13=)
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.39G>C (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
NM_019109.5(ALG1):c.57G>A (p.Leu19=)

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