ClinVar Miner

List of variants in gene ALG1, LOC130058383 studied for ALG1-congenital disorder of glycosylation

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.5071909G>A rs78694906 0.00043
NC_000016.10:g.5071885T>C rs369180139 0.00010
NM_019109.5(ALG1):c.37C>G (p.Leu13Val) rs758104063 0.00007
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu) rs1386626500 0.00001
NM_019109.5(ALG1):c.75C>G (p.Arg25=) rs369610043 0.00001
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
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.29C>A (p.Ala10Glu) rs767455250
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.34_51dup (p.Cys12_Leu17dup) rs1436106795
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.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
NM_019109.5(ALG1):c.46C>T (p.Pro16Ser)
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup) rs1414667961
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
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=)
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
NM_019109.5(ALG1):c.69G>C (p.Trp23Cys)
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys) rs1956823060
NM_019109.5(ALG1):c.78G>C (p.Trp26Cys)
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)

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