ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 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_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
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_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00010
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala) rs746099604 0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala) rs750856311 0.00008
NM_002435.3(MPI):c.-5C>T rs145533697 0.00008
NM_005787.5(ALG3):c.-26G>C rs747569137 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_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 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.914C>G (p.Ser305Cys) rs766759178 0.00006
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_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His) rs1195010293 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_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) rs371629121 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 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.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187 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_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_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893 0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His) rs750005344 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_013339.4(ALG6):c.681-5T>C rs778405436 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_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_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) rs376754460 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr) rs778099828 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met) rs781158335 0.00001
NM_002435.3(MPI):c.902A>G (p.Lys301Arg) rs534508637 0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 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_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_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_052859.4(RFT1):c.63G>A (p.Gln21=) rs139372284 0.00001
NM_000303.3(PMM2):c.*91C>T
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) rs773420873
NM_000303.3(PMM2):c.640-13C>A rs372181885
NM_000303.3(PMM2):c.640-16C>G rs2141051377
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) rs778488908
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala) rs887315764
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del) rs746614953
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer) rs964823190
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661
NM_002435.3(MPI):c.*129G>C rs80226376
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_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
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293

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