ClinVar Miner

List of variants in gene UNG reported as uncertain significance for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_080911.3(UNG):c.*699T>C rs762462658 0.00119
NM_080911.3(UNG):c.*109A>G rs533948770 0.00098
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_080911.3(UNG):c.*880A>T rs567806750 0.00052
NM_080911.3(UNG):c.194C>T (p.Pro65Leu) rs199956941 0.00051
NM_080911.3(UNG):c.183G>A (p.Pro61=) rs147490205 0.00038
NM_080911.3(UNG):c.514C>G (p.Pro172Ala) rs143527092 0.00018
NM_080911.3(UNG):c.805C>T (p.Arg269Trp) rs143034537 0.00018
NM_080911.3(UNG):c.593A>G (p.His198Arg) rs201388456 0.00013
NM_080911.3(UNG):c.32T>C (p.Phe11Ser) rs747684225 0.00011
NM_080911.3(UNG):c.*313C>G rs886048909 0.00010
NM_080911.3(UNG):c.265A>G (p.Asn89Asp) rs201031933 0.00009
NM_080911.3(UNG):c.*522A>G rs189054927 0.00008
NM_080911.3(UNG):c.*445C>T rs769388131 0.00007
NM_080911.3(UNG):c.*573G>C rs1028482157 0.00006
NM_080911.3(UNG):c.*611C>T rs886048911 0.00006
NM_080911.3(UNG):c.173C>T (p.Pro58Leu) rs371482568 0.00006
NM_080911.3(UNG):c.721T>C (p.Trp241Arg) rs150180082 0.00006
NM_080911.3(UNG):c.399A>C (p.Gln133His) rs576044400 0.00005
NM_080911.3(UNG):c.260C>T (p.Ala87Val) rs767034552 0.00004
NM_080911.3(UNG):c.415C>A (p.Gln139Lys) rs766218046 0.00004
NM_080911.3(UNG):c.452T>C (p.Leu151Pro) rs746462706 0.00004
NM_080911.3(UNG):c.548A>G (p.Tyr183Cys) rs745764048 0.00004
NM_080911.3(UNG):c.81C>A (p.Ala27=) rs761928219 0.00004
NM_080911.3(UNG):c.*111A>T rs770692724 0.00003
NM_080911.3(UNG):c.188C>T (p.Ser63Phe) rs140065688 0.00003
NM_080911.3(UNG):c.36C>A (p.Ser12=) rs772832695 0.00003
NM_080911.3(UNG):c.851A>G (p.Tyr284Cys) rs149153434 0.00003
NM_080911.3(UNG):c.191C>G (p.Ser64Trp) rs757987852 0.00002
NM_080911.3(UNG):c.366A>C (p.Arg122Ser) rs200273184 0.00002
NM_080911.3(UNG):c.769T>C (p.Tyr257His) rs769188214 0.00002
NM_080911.3(UNG):c.802-8T>A rs771426933 0.00002
NM_080911.3(UNG):c.*2C>A rs767818599 0.00001
NM_080911.3(UNG):c.*655A>C rs775022596 0.00001
NM_080911.3(UNG):c.-73C>T rs886048904 0.00001
NM_080911.3(UNG):c.231C>G (p.Asn77Lys) rs762261195 0.00001
NM_080911.3(UNG):c.268G>C (p.Val90Leu) rs749104168 0.00001
NM_080911.3(UNG):c.34T>A (p.Ser12Thr) rs769496984 0.00001
NM_080911.3(UNG):c.371A>G (p.His124Arg) rs1035623046 0.00001
NM_080911.3(UNG):c.487C>G (p.His163Asp) rs1188727621 0.00001
NM_080911.3(UNG):c.523C>G (p.Pro175Ala) rs1201337667 0.00001
NM_080911.3(UNG):c.583C>A (p.His195Asn) rs1441489549 0.00001
NM_080911.3(UNG):c.61G>A (p.Ala21Thr) rs1435043915 0.00001
NM_080911.3(UNG):c.620A>G (p.Gln207Arg) rs1196324378 0.00001
NM_080911.3(UNG):c.623-9T>A rs745983593 0.00001
NM_080911.3(UNG):c.638A>G (p.Asn213Ser) rs776921243 0.00001
NM_080911.3(UNG):c.65C>T (p.Pro22Leu) rs373668102 0.00001
NM_080911.3(UNG):c.6C>A (p.Ile2=) rs886048905 0.00001
NM_080911.3(UNG):c.801+5G>A rs762578814 0.00001
NM_080911.3(UNG):c.812A>G (p.His271Arg) rs147460908 0.00001
NM_080911.3(UNG):c.824C>T (p.Thr275Met) rs761656626 0.00001
NM_080911.3(UNG):c.839C>T (p.Pro280Leu) rs202127223 0.00001
NM_080911.3(UNG):c.86A>C (p.Gln29Pro) rs765512122 0.00001
NC_000012.11:g.(?_109547614)_(109547774_?)del
NC_000012.11:g.(?_109547614)_(109547794_?)dup
NC_000012.12:g.(?_109109809)_(109109989_?)del
NM_080911.3(UNG):c.*1018A>G rs538993598
NM_080911.3(UNG):c.*129C>T rs2042250000
NM_080911.3(UNG):c.*159G>A rs886048907
NM_080911.3(UNG):c.*281C>T rs886048908
NM_080911.3(UNG):c.*376C>G rs2042251751
NM_080911.3(UNG):c.*500C>G rs780337127
NM_080911.3(UNG):c.*537G>A rs886048910
NM_080911.3(UNG):c.*545A>G rs562354759
NM_080911.3(UNG):c.*705T>C rs990568930
NM_080911.3(UNG):c.*719G>A rs886048912
NM_080911.3(UNG):c.*858T>G rs914567653
NM_080911.3(UNG):c.*866AT[5] rs56185014
NM_080911.3(UNG):c.-50G>A rs370117219
NM_080911.3(UNG):c.-51A>G rs375712849
NM_080911.3(UNG):c.-51A>T rs375712849
NM_080911.3(UNG):c.134C>T (p.Ala45Val)
NM_080911.3(UNG):c.14A>G (p.Lys5Arg) rs2135880926
NM_080911.3(UNG):c.155C>G (p.Pro52Arg) rs771026474
NM_080911.3(UNG):c.178_182delinsCAGGAGGA (p.Thr60_Pro61delinsGlnGluGlu) rs2042150747
NM_080911.3(UNG):c.200G>A (p.Ser67Asn) rs755887246
NM_080911.3(UNG):c.204C>G (p.Ala68=) rs777436497
NM_080911.3(UNG):c.204C>T (p.Ala68=) rs777436497
NM_080911.3(UNG):c.232A>G (p.Lys78Glu) rs1158616684
NM_080911.3(UNG):c.263G>C (p.Arg88Pro)
NM_080911.3(UNG):c.271C>G (p.Pro91Ala) rs2135882421
NM_080911.3(UNG):c.288G>C (p.Glu96Asp)
NM_080911.3(UNG):c.318C>A (p.Phe106Leu) rs2042152878
NM_080911.3(UNG):c.340-3C>T rs2042158091
NM_080911.3(UNG):c.388C>A (p.Pro130Thr)
NM_080911.3(UNG):c.399A>G (p.Gln133=) rs576044400
NM_080911.3(UNG):c.435+15T>A rs765672149
NM_080911.3(UNG):c.437T>G (p.Val146Gly)
NM_080911.3(UNG):c.47_73del (p.Ala16_Pro24del) rs1426059529
NM_080911.3(UNG):c.487C>T (p.His163Tyr)
NM_080911.3(UNG):c.489C>A (p.His163Gln)
NM_080911.3(UNG):c.489C>G (p.His163Gln) rs376918741
NM_080911.3(UNG):c.490G>A (p.Gly164Arg) rs745760429
NM_080911.3(UNG):c.508C>G (p.Gln170Glu) rs2042181539
NM_080911.3(UNG):c.521C>T (p.Pro174Leu)
NM_080911.3(UNG):c.524C>T (p.Pro175Leu) rs2135885863
NM_080911.3(UNG):c.527C>T (p.Pro176Leu)
NM_080911.3(UNG):c.541A>G (p.Asn181Asp) rs2135886688
NM_080911.3(UNG):c.544A>G (p.Ile182Val) rs545691651
NM_080911.3(UNG):c.580G>A (p.Val194Ile)
NM_080911.3(UNG):c.586C>T (p.Pro196Ser) rs2135886797
NM_080911.3(UNG):c.622+6C>G
NM_080911.3(UNG):c.62C>T (p.Ala21Val) rs1268732277
NM_080911.3(UNG):c.631C>A (p.Leu211Ile) rs2042193445
NM_080911.3(UNG):c.631C>T (p.Leu211Phe)
NM_080911.3(UNG):c.634C>G (p.Leu212Val)
NM_080911.3(UNG):c.640G>A (p.Ala214Thr)
NM_080911.3(UNG):c.653T>G (p.Val218Gly) rs1357632504
NM_080911.3(UNG):c.660C>T (p.Ala220=) rs572632781
NM_080911.3(UNG):c.664C>G (p.Gln222Glu) rs2042193896
NM_080911.3(UNG):c.674C>T (p.Ser225Phe)
NM_080911.3(UNG):c.686G>A (p.Arg229Gln) rs146408261
NM_080911.3(UNG):c.710C>G (p.Ala237Gly) rs201146665
NM_080911.3(UNG):c.737C>T (p.Ser246Leu)
NM_080911.3(UNG):c.76C>T (p.Pro26Ser) rs1321029062
NM_080911.3(UNG):c.778AAG[1] (p.Lys261del) rs754010984
NM_080911.3(UNG):c.77C>A (p.Pro26Gln)
NM_080911.3(UNG):c.796G>C (p.Asp266His) rs2135887679
NM_080911.3(UNG):c.802-6T>C rs1593326349
NM_080911.3(UNG):c.824C>G (p.Thr275Arg)
NM_080911.3(UNG):c.825G>A (p.Thr275=) rs765151419
NM_080911.3(UNG):c.868T>G (p.Cys290Gly) rs749817306
NM_080911.3(UNG):c.891dup (p.Glu298Ter) rs2042248475
NM_080911.3(UNG):c.911G>A (p.Gly304Asp) rs1555265484
NM_080911.3(UNG):c.925G>A (p.Asp309Asn)
NM_080911.3(UNG):c.934G>A (p.Glu312Lys) rs2135896214

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