ClinVar Miner

List of variants reported as likely benign for ALG1-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
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.391-15C>G rs374836725 0.00046
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00013
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_019109.5(ALG1):c.1050C>T (p.Ala350=) rs777066439 0.00003
NM_019109.5(ALG1):c.1263+18C>T rs570783073 0.00003
NM_019109.5(ALG1):c.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.126C>T (p.Asp42=) rs1203067807 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.961+8C>G rs371353008
NM_201400.4(EEF2KMT):c.*891A>T rs3187779

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