ClinVar Miner

List of variants reported as uncertain significance for ALG1-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.142C>T rs1051082443 0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr) rs1314923558 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.176A>C (p.His59Pro) rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg) rs773372110
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu) rs767455250
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353

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