ClinVar Miner

List of variants in gene ALG1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys) rs147412842 0.00081
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp) rs759843220 0.00031
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.284C>T (p.Ala95Val) rs368284764 0.00011
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_019109.5(ALG1):c.20T>G (p.Val7Gly) rs780711908 0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe) rs755804171 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.1048G>A (p.Ala350Thr) rs138275657 0.00004
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.545A>C (p.Glu182Ala) rs1011307139 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.919C>G (p.Leu307Val) rs368735974 0.00004
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly) rs776908571 0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 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.1055A>T (p.Asp352Val) rs765238558 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.683A>G (p.Asp228Gly) rs759264819 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser) rs549071467 0.00002
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe) rs761452986 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser) rs983547319 0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met) rs762385611 0.00001
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn) rs1308517122 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.287T>C (p.Val96Ala) rs534863399 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys) rs200094659 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.516T>G (p.His172Gln) rs1310088513 0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser) rs760563077 0.00001
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser) rs780593921 0.00001
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln) rs199674071 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser) rs1263087642 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly) rs1234795312 0.00001
NM_019109.5(ALG1):c.961+6G>T rs1304012856 0.00001
NC_000016.9:g.(?_5121851)_(5127555_?)dup
NC_000016.9:g.(?_5130927)_(5131077_?)dup
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup) rs2142721988
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg) rs2142722084
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr) rs2142725570
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly) rs2142725608
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.1165G>A (p.Val389Met) rs2142725866
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1193A>G (p.His398Arg) rs1292094188
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
NM_019109.5(ALG1):c.1257G>C (p.Gln419His) rs2142728655
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg) rs752179113
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
NM_019109.5(ALG1):c.208+19_208+20insTATG rs756830715
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu) rs1205327334
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) rs755346143
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
NM_019109.5(ALG1):c.287-7C>G
NM_019109.5(ALG1):c.287T>A (p.Val96Asp) rs534863399
NM_019109.5(ALG1):c.287T>G (p.Val96Gly) rs534863399
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala) rs1252818613
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg) rs992880561
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe) rs200094659
NM_019109.5(ALG1):c.390+3G>T
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.390+6T>G rs2142702237
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser) rs1956892771
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys) rs2142707214
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe) rs2142707280
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg) rs1192356042
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp) rs2142707365
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.523G>T (p.Val175Phe) rs762783729
NM_019109.5(ALG1):c.529C>G (p.Leu177Val) rs200194917
NM_019109.5(ALG1):c.539+9C>G
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.568C>A (p.His190Asn) rs771904667
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
NM_019109.5(ALG1):c.583G>T (p.Val195Phe) rs2142712225
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys) rs1956934637
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr) rs1239003111
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
NM_019109.5(ALG1):c.717C>T (p.Ser239=) rs1956945310
NM_019109.5(ALG1):c.740+6C>T
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup) rs1331794136
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln) rs1308969550
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del) rs1206167331
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr) rs1364564952
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
NM_019109.5(ALG1):c.863-11T>C
NM_019109.5(ALG1):c.863-3T>A
NM_019109.5(ALG1):c.863-3T>C rs1208866677
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly) rs192564717
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
NM_019109.5(ALG1):c.877_879del (p.Ser293del) rs776453756
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys) rs1421613066
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser) rs2142716887
NM_019109.5(ALG1):c.901+5G>T
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln) rs753600353
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser) rs373396169
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.961+4C>G rs2142718757
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile) rs145851409
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_019109.5(ALG1):c.994C>G (p.Leu332Val) rs1957007425

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