ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.*366C>G rs1011373 0.02852
NM_006416.5(SLC35A1):c.*240G>T rs9450722 0.01462
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_024592.4(SRD5A3):c.-100C>G rs188248575 0.01067
NM_000303.3(PMM2):c.*1301del rs142140685 0.00737
NM_006765.4(TUSC3):c.*1665T>C rs562496423 0.00707
NM_002408.4(MGAT2):c.-443C>T rs3007037 0.00589
NM_006765.4(TUSC3):c.*1581C>T rs182976372 0.00571
NM_024740.2(ALG9):c.*2010_*2011del rs534577430 0.00567
NM_006765.4(TUSC3):c.*1078C>G rs146010253 0.00523
NM_024740.2(ALG9):c.*1681dup rs541176886 0.00510
NM_006765.4(TUSC3):c.*2397G>A rs141748006 0.00400
NM_006765.4(TUSC3):c.*1009C>A rs529522962 0.00336
NM_006765.4(TUSC3):c.*1197G>A rs142084453 0.00272
NM_006765.4(TUSC3):c.-82A>G rs528698301 0.00203
NM_006765.4(TUSC3):c.*1191C>T rs577607900 0.00199
NM_001382.3(DPAGT1):c.-349T>C rs141116509 0.00185
NM_006765.3(TUSC3):c.-190C>T rs573872013 0.00184
NM_006765.4(TUSC3):c.*2241T>C rs149848404 0.00147
NM_153603.4(COG7):c.810+6del rs150104389 0.00139
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002633.3(PGM1):c.*236T>C rs534628770 0.00128
NM_006765.4(TUSC3):c.*1957A>G rs182645260 0.00128
NM_006765.4(TUSC3):c.*1531A>G rs190430215 0.00112
NM_006765.4(TUSC3):c.*1024T>C rs537908016 0.00096
NM_006765.4(TUSC3):c.*589G>A rs188770392 0.00091
NM_018714.2(COG1):c.-19G>C rs566018587 0.00084
NM_006765.4(TUSC3):c.*2393A>G rs536605918 0.00083
NM_006765.4(TUSC3):c.*732G>A rs765219222 0.00071
NM_004870.3(MPDU1):c.-139G>A rs551554693 0.00069
NM_006765.4(TUSC3):c.937+11G>C rs371792364 0.00064
NM_024740.2(ALG9):c.*3358dup rs782323400 0.00056
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_006765.4(TUSC3):c.*1723T>G rs537999024 0.00050
NM_006765.4(TUSC3):c.*98A>G rs112569707 0.00047
NM_024592.5(SRD5A3):c.*2844del rs886059486 0.00046
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00045
NM_006765.4(TUSC3):c.*1371T>G rs749833807 0.00041
NM_020751.3(COG6):c.-21_-20insC rs746938820 0.00041
NM_006765.4(TUSC3):c.*1391T>C rs573563224 0.00040
NM_004870.4(MPDU1):c.*523dup rs543253078 0.00039
NM_018475.5(TMEM165):c.*397G>A rs534649782 0.00034
NM_006765.4(TUSC3):c.*222A>G rs571116375 0.00031
NM_032382.5(COG8):c.1620A>C (p.Leu540=) rs189199610 0.00030
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=) rs149033081 0.00029
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_006765.4(TUSC3):c.*2183G>A rs187586489 0.00026
NM_032382.5(COG8):c.*196dup rs767394291 0.00022
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile) rs146262101 0.00016
NM_006765.4(TUSC3):c.*1313G>A rs560586222 0.00014
NM_020751.3(COG6):c.*1443A>T rs772109615 0.00014
NM_006765.4(TUSC3):c.-46G>C rs749998335 0.00013
NM_001382.3(DPAGT1):c.-265C>A rs886047760 0.00012
NM_001382.3(DPAGT1):c.-300C>T rs79071301 0.00012
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu) rs150774756 0.00011
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_006765.3(TUSC3):c.-206C>T rs886062763 0.00011
NM_006765.4(TUSC3):c.*947A>G rs963702307 0.00011
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_006765.4(TUSC3):c.*2363G>T rs554105159 0.00010
NM_006765.4(TUSC3):c.*763A>C rs539187664 0.00010
NM_006765.4(TUSC3):c.-130C>G rs886062770 0.00010
NM_004870.3(MPDU1):c.-36C>T rs370389790 0.00009
NM_006765.4(TUSC3):c.*2101A>G rs151122954 0.00009
NM_018714.3(COG1):c.838C>A (p.Leu280Met) rs140691967 0.00009
NM_005787.6(ALG3):c.477C>T (p.Cys159=) rs201087932 0.00008
NM_006765.4(TUSC3):c.*2283T>C rs960356882 0.00008
NM_002633.3(PGM1):c.*72A>G rs761043925 0.00006
NM_006765.3(TUSC3):c.-303C>G rs886062761 0.00006
NM_006765.3(TUSC3):c.-304G>T rs886062760 0.00006
NM_006765.4(TUSC3):c.*1607T>C rs146317430 0.00006
NM_006765.4(TUSC3):c.*499G>A rs1321556219 0.00006
NM_006765.4(TUSC3):c.-48C>T rs750899051 0.00006
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) rs755808199 0.00006
NM_006765.4(TUSC3):c.934C>T (p.Arg312Trp) rs554205458 0.00006
NM_024740.2(ALG9):c.*1307C>T rs782298169 0.00006
NM_002435.3(MPI):c.*56del rs886051483 0.00005
NM_006765.4(TUSC3):c.*188C>T rs923246673 0.00005
NM_024592.5(SRD5A3):c.*2277del rs886059482 0.00005
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985 0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046 0.00004
NM_006765.4(TUSC3):c.*2037G>C rs775550670 0.00004
NM_006765.4(TUSC3):c.*605C>G rs749903402 0.00004
NM_006765.4(TUSC3):c.852T>C (p.Ile284=) rs781741877 0.00004
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327 0.00003
NM_006765.4(TUSC3):c.426+15C>T rs574008930 0.00003
NM_006765.4(TUSC3):c.677A>G (p.Tyr226Cys) rs146409575 0.00003
NM_013339.4(ALG6):c.*1385T>C rs886046479 0.00003
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00003
NM_181581.3(DUS4L):c.-111+60_-111+61del rs886061878 0.00003
NM_002408.4(MGAT2):c.*769G>T rs537612516 0.00002
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg) rs149616917 0.00002
NM_006765.4(TUSC3):c.-51G>A rs779146487 0.00002
NM_018714.3(COG1):c.1011C>G (p.Thr337=) rs774720405 0.00002
NM_000303.3(PMM2):c.*1219C>T rs546209036 0.00001
NM_001497.4(B4GALT1):c.*2398del rs886063861 0.00001
NM_001497.4(B4GALT1):c.*714G>C rs886063871 0.00001
NM_002633.3(PGM1):c.*348G>A rs58522038 0.00001
NM_002633.3(PGM1):c.*357A>G rs886046484 0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481 0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808 0.00001
NM_006765.4(TUSC3):c.*217C>T rs1201787189 0.00001
NM_006765.4(TUSC3):c.*2277A>G rs936557459 0.00001
NM_006765.4(TUSC3):c.*2371C>T rs1270490406 0.00001
NM_006765.4(TUSC3):c.*288G>A rs781373100 0.00001
NM_006765.4(TUSC3):c.-150C>T rs886062769 0.00001
NM_006765.4(TUSC3):c.17C>T (p.Ala6Val) rs1211304490 0.00001
NM_006765.4(TUSC3):c.259A>G (p.Ile87Val) rs759296891 0.00001
NM_006765.4(TUSC3):c.408G>A (p.Gly136=) rs762831751 0.00001
NM_006765.4(TUSC3):c.843A>G (p.Ser281=) rs202151515 0.00001
NM_012257.4(HBP1):c.*1087_*1088insAA rs886061868 0.00001
NM_018475.4(TMEM165):c.-253C>T rs886059488 0.00001
NM_020751.3(COG6):c.*205C>G rs886050232 0.00001
NM_024079.5(ALG8):c.286A>T (p.Asn96Tyr) rs200900718 0.00001
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala) rs538716086 0.00001
NM_024105.4(ALG12):c.672G>A (p.Thr224=) rs747205653 0.00001
NM_032382.5(COG8):c.690C>T (p.Gly230=) rs886052252 0.00001
NM_052859.4(RFT1):c.*3342T>C rs886058708 0.00001
NM_153603.4(COG7):c.2146G>A (p.Asp716Asn) rs758228401 0.00001
NM_000303.2(PMM2):c.-70G>A rs563744399
NM_000303.3(PMM2):c.*423G>C rs886052462
NM_001413669.1(TUSC3):c.-30-83007A>G rs1801621217
NM_001497.4(B4GALT1):c.*1087dup rs753854896
NM_001497.4(B4GALT1):c.*1874C>T rs886063865
NM_001497.4(B4GALT1):c.*2172GTT[1] rs754771244
NM_001497.4(B4GALT1):c.*2172_*2176del rs886063864
NM_001497.4(B4GALT1):c.*2200_*2203del rs751351046
NM_001497.4(B4GALT1):c.*2718G>C rs886063859
NM_001497.4(B4GALT1):c.*705dup rs779761525
NM_001497.4(B4GALT1):c.*730AGAA[1] rs537888935
NM_002408.4(MGAT2):c.*286_*289del rs886050519
NM_002408.4(MGAT2):c.*600TGAT[1] rs750394836
NM_002408.4(MGAT2):c.*666_*669del rs573436485
NM_002408.4(MGAT2):c.*669del rs573436485
NM_002408.4(MGAT2):c.-76GCCC[4] rs886050518
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) rs563513161
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_004870.3(MPDU1):c.-108G>A rs766385750
NM_004870.3(MPDU1):c.-182G>C rs567994442
NM_005216.4(DDOST):c.-63delG rs886045873
NM_005216.4(DDOST):c.206_211delACCGGG rs769669810
NM_005216.5(DDOST):c.*542TAAA[10] rs78039244
NM_005216.5(DDOST):c.*542TAAA[11] rs78039244
NM_005216.5(DDOST):c.*542TAAA[12] rs78039244
NM_005216.5(DDOST):c.*542TAAA[13] rs78039244
NM_005216.5(DDOST):c.*542TAAA[14] rs78039244
NM_005216.5(DDOST):c.*542TAAA[8] rs78039244
NM_005216.5(DDOST):c.*575_*577AAAT[3]A[11] rs886045853
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[11] rs886045853
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[7] rs886045853
NM_005216.5(DDOST):c.*579dup rs199990086
NM_006416.5(SLC35A1):c.*140AAAC[1] rs886061816
NM_006416.5(SLC35A1):c.*333del rs886061818
NM_006416.5(SLC35A1):c.*521GT[1] rs886061819
NM_006416.5(SLC35A1):c.*525_*528dup rs1554167143
NM_006765.3(TUSC3):c.-175_-174CT[1] rs761637643
NM_006765.3(TUSC3):c.-191C>T rs886062765
NM_006765.3(TUSC3):c.-197_-195TCT[1] rs886062764
NM_006765.3(TUSC3):c.-254C>A rs775641863
NM_006765.3(TUSC3):c.-289A>G rs886062762
NM_006765.4(TUSC3):c.*111G>A rs557579844
NM_006765.4(TUSC3):c.*128A>G rs1812266668
NM_006765.4(TUSC3):c.*1737C>T rs886062773
NM_006765.4(TUSC3):c.*1861A>G rs1812315835
NM_006765.4(TUSC3):c.*1973T>A rs1812318856
NM_006765.4(TUSC3):c.*2010dup rs886062774
NM_006765.4(TUSC3):c.*2057T>C rs959992574
NM_006765.4(TUSC3):c.*2131G>T rs1812323628
NM_006765.4(TUSC3):c.*2146A>T rs886062775
NM_006765.4(TUSC3):c.*2316A>G rs1812329333
NM_006765.4(TUSC3):c.*2407G>A rs888651565
NM_006765.4(TUSC3):c.*286C>G rs14732
NM_006765.4(TUSC3):c.*341A>G rs1812272965
NM_006765.4(TUSC3):c.*364G>C rs111425809
NM_006765.4(TUSC3):c.*36T>G rs1374192276
NM_006765.4(TUSC3):c.*510C>A rs141126690
NM_006765.4(TUSC3):c.*566G>A rs536053560
NM_006765.4(TUSC3):c.*686A>C rs1812284354
NM_006765.4(TUSC3):c.*869A>C rs886062772
NM_006765.4(TUSC3):c.-111C>A rs1479784219
NM_006765.4(TUSC3):c.-159C>T rs886062768
NM_006765.4(TUSC3):c.-167G>A rs886062767
NM_006765.4(TUSC3):c.189C>G (p.Arg63=) rs751317981
NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu) rs1420153973
NM_006765.4(TUSC3):c.3G>A (p.Met1Ile) rs886062771
NM_006765.4(TUSC3):c.414del (p.Asp138fs) rs1563154271
NM_006765.4(TUSC3):c.426+13A>T rs757683053
NM_006765.4(TUSC3):c.482A>G (p.Lys161Arg) rs1807328725
NM_006765.4(TUSC3):c.62C>G (p.Pro21Arg) rs750727769
NM_006765.4(TUSC3):c.838G>A (p.Glu280Lys) rs1810684992
NM_013339.4(ALG6):c.*705del rs886046475
NM_013339.4(ALG6):c.*796AT[6] rs886046476
NM_018389.5(SLC35C1):c.*1583dup rs561198671
NM_018389.5(SLC35C1):c.-546_-540dup rs886048308
NM_018475.4(TMEM165):c.-252C>A rs886059489
NM_018475.5(TMEM165):c.*568dup rs886059490
NM_018714.2(COG1):c.-18G>T rs751458075
NM_020751.2(COG6):c.-67A>T rs548475910
NM_020751.3(COG6):c.*1438AGA[1] rs886050235
NM_020751.3(COG6):c.*147dup rs554269460
NM_021645.6(UTP14C):c.726A>C (p.Lys242Asn) rs886050315
NM_024105.4(ALG12):c.*484dup rs752077223
NM_024105.4(ALG12):c.*491G>T rs886057612
NM_024592.5(SRD5A3):c.*2844_*2845del rs1553883157
NM_024592.5(SRD5A3):c.*2858del rs397993423
NM_024592.5(SRD5A3):c.*2858dup rs397993423
NM_024592.5(SRD5A3):c.*340_*341del rs886059472
NM_024592.5(SRD5A3):c.*341CA[18] rs3034886
NM_024592.5(SRD5A3):c.*341CA[24] rs3034886
NM_024740.2(ALG9):c.*1211AGTT[1] rs782618635
NM_024740.2(ALG9):c.*1679del rs150703313
NM_024740.2(ALG9):c.*1679dup rs150703313
NM_024740.2(ALG9):c.*2442del rs886047672
NM_024740.2(ALG9):c.*2444_*2449del rs886047670
NM_024740.2(ALG9):c.*2444del rs886047671
NM_024740.2(ALG9):c.*2451_*2457del rs886047668
NM_024740.2(ALG9):c.*2456del rs886047669
NM_024740.2(ALG9):c.*2473_*2474insT rs886047666
NM_024740.2(ALG9):c.*2474_*2475insT rs886047665
NM_024740.2(ALG9):c.*2479del rs376955296
NM_024740.2(ALG9):c.*2480_*2481del rs886047663
NM_024740.2(ALG9):c.*2480del rs886047664
NM_024740.2(ALG9):c.*3437_*3440del rs371625196
NM_024740.2(ALG9):c.*3954del rs573760463
NM_033087.4(ALG2):c.*1256AT[2] rs886063259
NM_033087.4(ALG2):c.*1470_*1472del rs139943534
NM_033087.4(ALG2):c.*513dup rs544873504
NM_052859.4(RFT1):c.*3053_*3055del rs886058711
NM_052859.4(RFT1):c.696+5_696+8del rs759775801
NM_153603.4(COG7):c.*277del rs886051818
NM_153603.4(COG7):c.170-9del rs71379679

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