ClinVar Miner

List of variants in gene UPB1 studied for beta-ureidopropionase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016327.3(UPB1):c.*690T>G rs1314 0.16200
NM_016327.3(UPB1):c.-17A>T rs2070475 0.11463
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_016327.3(UPB1):c.846C>T (p.Phe282=) rs2232867 0.00859
NM_016327.3(UPB1):c.957G>A (p.Val319=) rs62231899 0.00726
NM_016327.3(UPB1):c.-63C>T rs116629687 0.00486
NM_016327.3(UPB1):c.976C>A (p.Arg326=) rs113975342 0.00403
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_016327.3(UPB1):c.702C>T (p.Tyr234=) rs74883165 0.00382
NM_016327.3(UPB1):c.1086T>C (p.Tyr362=) rs2232870 0.00273
NM_016327.3(UPB1):c.82G>A (p.Val28Ile) rs141896929 0.00229
NM_016327.3(UPB1):c.*356G>A rs111642761 0.00214
NM_016327.3(UPB1):c.*619C>T rs151216546 0.00171
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_016327.3(UPB1):c.*398G>C rs145006667 0.00140
NM_016327.3(UPB1):c.514G>A (p.Glu172Lys) rs145749836 0.00090
NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) rs138872001 0.00084
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_016327.3(UPB1):c.*652A>T rs763554233 0.00022
NM_016327.3(UPB1):c.384T>C (p.Cys128=) rs200161281 0.00017
NM_016327.3(UPB1):c.-61C>T rs575811957 0.00016
NM_016327.3(UPB1):c.1071+10C>T rs368034969 0.00016
NM_016327.3(UPB1):c.903A>G (p.Gly301=) rs202171848 0.00014
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) rs200145797 0.00014
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) rs121908066 0.00013
NM_016327.3(UPB1):c.225G>T (p.Gly75=) rs150740488 0.00011
NM_016327.3(UPB1):c.-65T>C rs886057288 0.00010
NM_016327.3(UPB1):c.1026C>T (p.Leu342=) rs201859426 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_016327.3(UPB1):c.889G>A (p.Glu297Lys) rs764280358 0.00010
NM_016327.3(UPB1):c.*179A>C rs770833575 0.00006
NM_016327.3(UPB1):c.26T>C (p.Leu9Pro) rs755104394 0.00006
NM_016327.3(UPB1):c.732G>A (p.Met244Ile) rs150690829 0.00006
NM_016327.3(UPB1):c.822C>T (p.Asn274=) rs201230760 0.00006
NM_016327.3(UPB1):c.-11G>A rs541169952 0.00005
NM_016327.3(UPB1):c.464C>T (p.Ala155Val) rs199788632 0.00004
NM_016327.3(UPB1):c.54G>A (p.Pro18=) rs185719774 0.00004
NM_016327.3(UPB1):c.142T>C (p.Ser48Pro) rs373573512 0.00003
NM_016327.3(UPB1):c.899C>T (p.Ser300Leu) rs762081192 0.00003
NM_016327.3(UPB1):c.*505A>G rs769797838 0.00002
NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn) rs137995678 0.00002
NM_016327.3(UPB1):c.684C>T (p.Ile228=) rs773774550 0.00002
NM_016327.3(UPB1):c.873+1G>A rs747539101 0.00002
NM_016327.3(UPB1):c.203G>A (p.Arg68Gln) rs766148534 0.00001
NM_016327.3(UPB1):c.296G>A (p.Arg99His) rs750057554 0.00001
NM_016327.3(UPB1):c.310G>A (p.Val104Ile) rs1176402115 0.00001
NM_016327.3(UPB1):c.354G>A (p.Gln118=) rs770091394 0.00001
NM_016327.3(UPB1):c.364+6T>G rs772212502 0.00001
NM_016327.3(UPB1):c.387G>A (p.Thr129=) rs149187760 0.00001
NM_016327.3(UPB1):c.38T>C (p.Leu13Ser) rs200688546 0.00001
NM_016327.3(UPB1):c.676G>A (p.Gly226Arg) rs147133523 0.00001
NM_016327.2(UPB1):c.-79C>T rs574700972
NM_016327.2(UPB1):c.-80C>G rs2070474
NM_016327.3(UPB1):c.*296dup rs113492967
NM_016327.3(UPB1):c.*548AAGT[1] rs886057290
NM_016327.3(UPB1):c.*549A>C rs148662372
NM_016327.3(UPB1):c.-27G>C rs780314131
NM_016327.3(UPB1):c.-7C>G rs200677387
NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile) rs1012254852
NM_016327.3(UPB1):c.1092G>A (p.Met364Ile) rs2044472299
NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly) rs542324398
NM_016327.3(UPB1):c.47A>C (p.His16Pro) rs199934207
NM_016327.3(UPB1):c.5C>G (p.Ala2Gly) rs764932232
NM_016327.3(UPB1):c.670C>T (p.Gln224Ter)
NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) rs145766755
NM_016327.3(UPB1):c.792C>T (p.Ser264=) rs145766755
NM_016327.3(UPB1):c.916+1_916+2dup rs2147041278

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.