ClinVar Miner

List of variants reported as uncertain significance for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.*105A>G rs183251779 0.00329
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00283
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983 0.00093
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00068
NM_000155.3(GALT):c.-88G>A rs144505931 0.00041
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NC_000009.12:g.34646584C>G rs368046870 0.00024
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00012
NM_000155.4(GALT):c.378-12G>A rs151309174 0.00011
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000155.4(GALT):c.211C>T (p.Leu71Phe) rs143994870 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000155.4(GALT):c.270T>C (p.Asp90=) rs1300102277 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00003
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.378-7C>T rs751084584 0.00003
NM_000155.4(GALT):c.409G>A (p.Val137Ile) rs1821146618 0.00003
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792 0.00003
NM_000155.4(GALT):c.233C>T (p.Ala78Val) rs981018740 0.00002
NM_000155.4(GALT):c.507+10G>A rs753052473 0.00002
NM_000155.4(GALT):c.68C>A (p.Thr23Asn) rs1365354002 0.00002
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764 0.00002
NM_000155.4(GALT):c.*96A>C rs967576667 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000155.4(GALT):c.252G>A (p.Glu84=) rs748732979 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977 0.00001
NM_000155.4(GALT):c.377+2dup rs763662108 0.00001
NM_000155.4(GALT):c.40G>A (p.Ala14Thr) rs750690794 0.00001
NM_000155.4(GALT):c.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.628A>G (p.Lys210Glu) rs896091797 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.773G>A (p.Arg258His) rs773766027 0.00001
NM_000155.4(GALT):c.787C>T (p.Arg263Trp) rs1448701207 0.00001
NM_000155.4(GALT):c.788G>A (p.Arg263Gln) rs777023967 0.00001
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.820+4A>C rs398123186 0.00001
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966 0.00001
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00001
NM_000155.4(GALT):c.875C>T (p.Thr292Met) rs369227288 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.12:g.34646578GTCA[4] rs111033640
NC_000009.12:g.34646581A>C rs1366467657
NM_000155.3(GALT):c.-38G>A rs886063883
NM_000155.4(GALT):c.*138C>T rs1821232966
NM_000155.4(GALT):c.*18C>G rs771618527
NM_000155.4(GALT):c.-96T>G rs1554709099
NM_000155.4(GALT):c.1008G>A (p.Met336Ile) rs770770917
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1031A>G (p.Gln344Arg)
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn) rs2492876351
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1052C>T (p.Pro351Leu)
NM_000155.4(GALT):c.1060-331G>C rs2132347271
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu) rs1821228380
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) rs111033823
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs) rs2492881242
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.173A>T (p.Glu58Val) rs2492861943
NM_000155.4(GALT):c.176C>A (p.Pro59His)
NM_000155.4(GALT):c.176C>G (p.Pro59Arg)
NM_000155.4(GALT):c.194T>C (p.Val65Ala) rs1211267776
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr) rs1469998825
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.211C>A (p.Leu71Ile)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.253-6C>A rs753450355
NM_000155.4(GALT):c.253-6C>G rs753450355
NM_000155.4(GALT):c.278T>C (p.Phe93Ser) rs1821135918
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.286G>C (p.Asp96His)
NM_000155.4(GALT):c.295T>A (p.Phe99Ile) rs1223049216
NM_000155.4(GALT):c.298C>G (p.Pro100Ala) rs2492864204
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.302C>G (p.Ala101Gly) rs2492864224
NM_000155.4(GALT):c.317C>T (p.Ala106Val)
NM_000155.4(GALT):c.31C>G (p.Arg11Gly) rs1172080423
NM_000155.4(GALT):c.328+33G>A rs767197888
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.346C>G (p.Leu116Val) rs1554709252
NM_000155.4(GALT):c.371G>T (p.Gly124Val) rs2492865051
NM_000155.4(GALT):c.377+26A>G rs2492865214
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.419C>T (p.Pro140Leu) rs1821147228
NM_000155.4(GALT):c.430G>C (p.Val144Leu) rs2132343177
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.457G>A (p.Ala153Thr) rs751174705
NM_000155.4(GALT):c.499T>G (p.Trp167Gly) rs111033708
NM_000155.4(GALT):c.502_504del (p.Val168del) rs1219976432
NM_000155.4(GALT):c.507+5G>A rs886043775
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.509T>C (p.Ile170Thr) rs111033839
NM_000155.4(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.4(GALT):c.529A>G (p.Met177Val) rs964746854
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr) rs367543259
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>T (p.His184Tyr) rs111033716
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr) rs2492868186
NM_000155.4(GALT):c.565-13T>A rs2132344016
NM_000155.4(GALT):c.572C>A (p.Ala191Asp) rs794727838
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.584T>G (p.Leu195Arg) rs111033728
NM_000155.4(GALT):c.630G>A (p.Lys210=) rs367543260
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.662A>G (p.Tyr221Cys)
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.4(GALT):c.697G>T (p.Val233Phe) rs111033843
NM_000155.4(GALT):c.727G>A (p.Val243Ile) rs1403255940
NM_000155.4(GALT):c.745T>C (p.Trp249Arg) rs111033757
NM_000155.4(GALT):c.748C>T (p.Pro250Ser) rs111033759
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.769C>T (p.Pro257Ser) rs2492872337
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.784C>T (p.Arg262Trp)
NM_000155.4(GALT):c.797A>G (p.Glu266Gly) rs1821178890
NM_000155.4(GALT):c.820+16A>C rs1414791300
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.863A>G (p.Asn288Ser) rs1821184031
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.4(GALT):c.931G>T (p.Ala311Ser) rs779020361
NM_000155.4(GALT):c.936C>G (p.Asn312Lys) rs771975129
NM_000155.4(GALT):c.950A>C (p.Gln317Pro) rs111033786
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.4(GALT):c.976C>T (p.Leu326Phe) rs1821199784

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.