ClinVar Miner

List of variants studied for ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts by Fulgent Genetics, Fulgent Genetics

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro) rs777335080 0.00021
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00020
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00020
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile) rs372626745 0.00015
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00004
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00004
NM_024079.5(ALG8):c.191C>T (p.Thr64Met) rs181948065 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.215C>T (p.Ala72Val) rs375108429 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00003
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00003
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00002
NM_024079.5(ALG8):c.710G>A (p.Arg237His) rs763258107 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys) rs867450807 0.00001
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln) rs1056737656 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.136A>G (p.Ile46Val) rs778145721 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.309dup (p.Leu104fs) rs2497114146 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.430A>T (p.Ile144Phe) rs143349528 0.00001
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg) rs201359142 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00001
NM_024079.5(ALG8):c.898+9G>A rs377616618 0.00001
NM_024079.5(ALG8):c.95+16G>A rs376357429 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.1000C>G (p.Pro334Ala)
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr) rs1860183744
NM_024079.5(ALG8):c.1042T>C (p.Ser348Pro)
NM_024079.5(ALG8):c.1057del (p.Trp353fs)
NM_024079.5(ALG8):c.1094G>A (p.Cys365Tyr)
NM_024079.5(ALG8):c.1114dup (p.Ser372fs)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val) rs1379263151
NM_024079.5(ALG8):c.1131del (p.Trp378fs)
NM_024079.5(ALG8):c.1179-7_1179-2del
NM_024079.5(ALG8):c.1184_1187delinsGTT (p.Leu395fs)
NM_024079.5(ALG8):c.1218del (p.Phe406_Leu407insTer)
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1222A>T (p.Ile408Phe)
NM_024079.5(ALG8):c.1276+1G>A
NM_024079.5(ALG8):c.1277-7T>G
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1312A>G (p.Thr438Ala)
NM_024079.5(ALG8):c.1350-3C>T rs568134909
NM_024079.5(ALG8):c.1354G>T (p.Glu452Ter)
NM_024079.5(ALG8):c.136dup (p.Ile46fs)
NM_024079.5(ALG8):c.1384T>G (p.Phe462Val)
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.139A>T (p.Thr47Ser) rs121908293
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.1453G>A (p.Val485Met)
NM_024079.5(ALG8):c.1472C>T (p.Pro491Leu)
NM_024079.5(ALG8):c.1544T>C (p.Leu515Ser)
NM_024079.5(ALG8):c.1576C>T (p.Gln526Ter)
NM_024079.5(ALG8):c.161dup (p.Trp55fs)
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu) rs748962880
NM_024079.5(ALG8):c.219G>A (p.Trp73Ter)
NM_024079.5(ALG8):c.272del (p.Asn91fs) rs866578354
NM_024079.5(ALG8):c.328G>A (p.Val110Ile)
NM_024079.5(ALG8):c.397G>A (p.Val133Met)
NM_024079.5(ALG8):c.437C>T (p.Ser146Leu)
NM_024079.5(ALG8):c.446T>A (p.Leu149His)
NM_024079.5(ALG8):c.491A>G (p.Gln164Arg)
NM_024079.5(ALG8):c.52G>A (p.Ala18Thr)
NM_024079.5(ALG8):c.544C>T (p.Gln182Ter) rs2497066474
NM_024079.5(ALG8):c.546+5A>G
NM_024079.5(ALG8):c.597G>C (p.Lys199Asn)
NM_024079.5(ALG8):c.635A>G (p.Tyr212Cys)
NM_024079.5(ALG8):c.643C>T (p.Arg215Ter)
NM_024079.5(ALG8):c.644G>C (p.Arg215Pro)
NM_024079.5(ALG8):c.669A>C (p.Lys223Asn)
NM_024079.5(ALG8):c.674-2A>G
NM_024079.5(ALG8):c.701G>A (p.Ser234Asn)
NM_024079.5(ALG8):c.716T>C (p.Ile239Thr)
NM_024079.5(ALG8):c.733G>A (p.Val245Ile)
NM_024079.5(ALG8):c.740T>G (p.Leu247Ter)
NM_024079.5(ALG8):c.757T>A (p.Leu253Met)
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.771G>A (p.Leu257=)
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.777+6C>T
NM_024079.5(ALG8):c.778-3C>A
NM_024079.5(ALG8):c.787C>G (p.Pro263Ala)
NM_024079.5(ALG8):c.78C>G (p.Cys26Trp)
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.809T>C (p.Phe270Ser)
NM_024079.5(ALG8):c.816C>A (p.Phe272Leu)
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.824del (p.Gly275fs) rs745894763
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.843G>C (p.Trp281Cys)
NM_024079.5(ALG8):c.852C>G (p.Asn284Lys)
NM_024079.5(ALG8):c.867C>G (p.Tyr289Ter)
NM_024079.5(ALG8):c.95+7G>T
NM_024079.5(ALG8):c.96-18T>A
NM_024079.5(ALG8):c.96-1G>A
NM_024079.5(ALG8):c.994G>T (p.Val332Leu)

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