ClinVar Miner

List of variants studied for disorder of multiple glycosylation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_007357.3(COG2):c.1765G>A (p.Val589Ile) rs34109129 0.01764
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) rs61757649 0.00528
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574 0.00411
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_152464.3(VMA12):c.156A>G (p.Gln52=) rs116914442 0.00259
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser) rs149181384 0.00166
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=) rs147070468 0.00134
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_032382.5(COG8):c.5C>T (p.Ala2Val) rs151318611 0.00089
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_015386.3(COG4):c.539A>G (p.Lys180Arg) rs138693104 0.00036
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_032382.5(COG8):c.886G>A (p.Glu296Lys) rs149850861 0.00019
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00014
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00011
NM_004341.5(CAD):c.2525G>A (p.Arg842His) rs199908899 0.00009
NM_015599.3(PGM3):c.38A>G (p.His13Arg) rs142328170 0.00008
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) rs745609223 0.00007
NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu) rs782745496 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_014908.4(DOLK):c.344C>T (p.Ala115Val) rs146804211 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_032382.5(COG8):c.741T>G (p.Phe247Leu) rs142530290 0.00006
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) rs754150966 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) rs766759178 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) rs374317240 0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) rs145125254 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) rs148817553 0.00003
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg) rs149616917 0.00002
NM_006348.5(COG5):c.59C>T (p.Ala20Val) rs368239973 0.00002
NM_006348.5(COG5):c.961C>A (p.Gln321Lys) rs370028534 0.00002
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_014908.4(DOLK):c.-22G>A rs754288997 0.00002
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr) rs769241947 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile) rs372057636 0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His) rs767965852 0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) rs373587710 0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) rs373115419 0.00002
NM_015386.3(COG4):c.811A>G (p.Ile271Val) rs551058375 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_006348.5(COG5):c.858G>A (p.Met286Ile) rs1325740175 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) rs140350881 0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) rs747555089 0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) rs763132281 0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) rs201363976 0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) rs765475110 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys) rs780974264 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00001
NM_001128227.3(GNE):c.51+1G>A
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_004341.5(CAD):c.2834_2835del (p.Ile945fs)
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) rs1676113645
NM_004341.5(CAD):c.5063-1G>A
NM_004341.5(CAD):c.5063-2A>G
NM_004341.5(CAD):c.5594-1G>A
NM_004341.5(CAD):c.5737dup (p.Gln1913fs) rs1159635090
NM_004341.5(CAD):c.656T>A (p.Leu219Ter)
NM_004870.4(MPDU1):c.657CTC[1] (p.Ser221del)
NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1593_1597del (p.Lys532fs)
NM_005476.7(GNE):c.1595dup (p.Leu534fs)
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1861del (p.Ala621fs)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.555dup (p.Tyr186fs)
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe) rs1283637638
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1750-3dup rs746706902
NM_006348.5(COG5):c.2078C>T (p.Ala693Val) rs751843896
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu) rs1031677638
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006348.5(COG5):c.538+20del rs201626701
NM_006348.5(COG5):c.538+6dup rs201626701
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1616_1617del (p.Glu539fs)
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)
NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_014908.4(DOLK):c.1110dup (p.Ile371fs)
NM_014908.4(DOLK):c.1234C>A (p.Leu412Ile)
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs) rs1287763056
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val) rs1588261710
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014908.4(DOLK):c.702G>C (p.Met234Ile) rs746656818
NM_015386.3(COG4):c.1290C>A (p.Tyr430Ter)
NM_015386.3(COG4):c.35C>T (p.Pro12Leu) rs146758430
NM_015386.3(COG4):c.494A>G (p.Tyr165Cys)
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs)
NM_015599.3(PGM3):c.1349_1352dup (p.Leu452fs)
NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015599.3(PGM3):c.457+2T>G
NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)
NM_015599.3(PGM3):c.787+1G>A
NM_015599.3(PGM3):c.907_919del (p.Thr303fs)
NM_020751.3(COG6):c.*315del rs142947196
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_032382.5(COG8):c.1202C>T (p.Ser401Leu)
NM_032382.5(COG8):c.664C>T (p.Leu222Phe)
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.51C>G (p.Ile17Met)
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)

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