ClinVar Miner

List of variants in gene ALG8 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.478+35A>T rs518624 0.99999
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_024079.5(ALG8):c.898+139C>T rs624350 0.62975
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_024079.5(ALG8):c.862T>C (p.Leu288=) rs61995924 0.04685
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024079.5(ALG8):c.682A>G (p.Ile228Val) rs150736564 0.00061
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024079.5(ALG8):c.459C>T (p.Phe153=) rs144501219 0.00013
NM_024079.5(ALG8):c.898+8A>G rs190448293 0.00013
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024079.5(ALG8):c.899-15A>G rs760264923 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024079.5(ALG8):c.228T>C (p.Tyr76=) rs371862915 0.00005
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.546+7A>T rs771817128 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.369-15A>G rs374645837 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.588A>C (p.Leu196=) rs562915665 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_024079.5(ALG8):c.-5C>T rs886048689 0.00002
NM_024079.5(ALG8):c.1276+9C>T rs747836496 0.00002
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr) rs769894472 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) rs1859926872 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1491G>A (p.Val497=) rs766871884 0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) rs990677542 0.00001
NM_024079.5(ALG8):c.1578A>G (p.Gln526=) rs479612 0.00001
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala) rs538716086 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.36T>C (p.Asn12=) rs1179361051 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu) rs748027702 0.00001
NM_024079.5(ALG8):c.479-3C>G rs753257659 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.623C>T (p.Ala208Val) rs886048688 0.00001
NM_024079.5(ALG8):c.678G>T (p.Gly226=) rs754476593 0.00001
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter) rs772492143 0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) rs1276719307 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.1038+16A>G
NM_024079.5(ALG8):c.1039-19C>G
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs) rs2136876881
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1227G>C (p.Leu409=) rs1590803789
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1277-10_1277-8del rs764468497
NM_024079.5(ALG8):c.1277-16del
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) rs2136868701
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.141_144del (p.His48fs)
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg) rs1861126453
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) rs758549233
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) rs2136868362
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter) rs1859771094
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
NM_024079.5(ALG8):c.174+2del
NM_024079.5(ALG8):c.174+30del rs59662312
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) rs1861709687
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu) rs748962880
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.345A>C (p.Val115=)
NM_024079.5(ALG8):c.354G>A (p.Val118=)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.368+13C>A
NM_024079.5(ALG8):c.368+16G>T
NM_024079.5(ALG8):c.368+1G>A
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.441A>G (p.Val147=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.478C>T (p.His160Tyr)
NM_024079.5(ALG8):c.479A>T (p.His160Leu) rs2136915887
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
NM_024079.5(ALG8):c.517A>G (p.Met173Val) rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val) rs1860461907
NM_024079.5(ALG8):c.588A>G (p.Leu196=) rs562915665
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys) rs886048687
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.824del (p.Gly275fs)
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.898+10C>T
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-15A>G
NM_024079.5(ALG8):c.96-2A>G rs1555073109
NM_024079.5(ALG8):c.96-6G>A rs199911532
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile) rs2136891638
NM_024079.5(ALG8):c.993A>T (p.Ser331=) rs758856513

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