ClinVar Miner

List of variants reported as uncertain significance for beta-ureidopropionase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_016327.3(UPB1):c.*619C>T rs151216546 0.00171
NM_016327.3(UPB1):c.*398G>C rs145006667 0.00140
NM_016327.3(UPB1):c.*23G>A rs201029672 0.00118
NM_016327.3(UPB1):c.514G>A (p.Glu172Lys) rs145749836 0.00090
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.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.822C>T (p.Asn274=) rs201230760 0.00006
NM_016327.3(UPB1):c.-11G>A rs541169952 0.00005
NM_016327.3(UPB1):c.*93A>G rs1053472125 0.00004
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.*10G>A rs753823591 0.00001
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.387G>A (p.Thr129=) rs149187760 0.00001
NM_016327.3(UPB1):c.676G>A (p.Gly226Arg) rs147133523 0.00001
NM_016327.2(UPB1):c.-79C>T rs574700972
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.1092G>A (p.Met364Ile) rs2044472299
NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) rs145766755
NM_016327.3(UPB1):c.792C>T (p.Ser264=) rs145766755

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