ClinVar Miner

List of variants in gene ALG1 reported as benign for ALG1-congenital disorder of glycosylation

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.741-111T>C rs2110339 0.96843
NM_019109.5(ALG1):c.391-24C>T rs4786590 0.94238
NM_019109.5(ALG1):c.630-55G>A rs7194217 0.94198
NM_019109.5(ALG1):c.540-111T>A rs11076869 0.94065
NM_019109.5(ALG1):c.1188-77G>T rs8056523 0.53440
NM_019109.5(ALG1):c.863-70C>T rs1846689 0.50015
NM_019109.5(ALG1):c.863-84G>A rs1846690 0.50001
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_019109.5(ALG1):c.723C>T (p.His241=) rs7195893 0.07135
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_019109.5(ALG1):c.334A>C (p.Met112Leu) rs113219939 0.00315
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_019109.5(ALG1):c.1092C>G (p.Val364=) rs113602091 0.00221
NM_019109.5(ALG1):c.1222C>T (p.Leu408=) rs149319732 0.00217
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_019109.5(ALG1):c.629+20C>T rs371416008 0.00014
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys) rs537333921 0.00007
NM_019109.5(ALG1):c.19G>A (p.Val7Ile) rs199891552 0.00006
NM_019109.5(ALG1):c.821G>A (p.Arg274His) rs529013891 0.00003
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.208+135dup rs34061670
NM_019109.5(ALG1):c.209-4del
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-13dup

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