ClinVar Miner

List of variants in gene UPK3A studied for renal hypodysplasia/aplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353 0.78464
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088 0.61535
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360 0.56430
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356 0.50960
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037 0.02422
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu) rs6006979 0.01361
NM_006953.4(UPK3A):c.588G>A (p.Thr196=) rs115882180 0.00735
NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala) rs145106685 0.00588
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter) rs138918236 0.00587
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter) rs147609981 0.00387
NM_006953.4(UPK3A):c.571+1G>A rs145723454 0.00371
NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr) rs150598171 0.00369
NM_006953.4(UPK3A):c.*107T>C rs558490093 0.00160
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186 0.00136
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308 0.00057
NM_006953.4(UPK3A):c.90C>T (p.Phe30=) rs199656309 0.00054
NM_006953.4(UPK3A):c.628G>A (p.Val210Ile) rs147247708 0.00040
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393 0.00031
NM_006953.4(UPK3A):c.*73C>T rs534707412 0.00026
NM_006953.4(UPK3A):c.450C>A (p.Gly150=) rs147160242 0.00021
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042 0.00013
NM_006953.4(UPK3A):c.209-11C>T rs201838809 0.00011
NM_006953.4(UPK3A):c.480G>A (p.Thr160=) rs200247042 0.00008
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681 0.00006
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522 0.00004
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533 0.00003
NM_006953.4(UPK3A):c.417C>T (p.Asn139=) rs531623690 0.00003
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606 0.00002
NM_006953.4(UPK3A):c.*42C>T rs746035232 0.00001
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu) rs1469984134 0.00001
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr) rs779158798 0.00001
NM_006953.4(UPK3A):c.*26C>T rs570266965
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.704+8C>G rs112177270
NM_006953.4(UPK3A):c.732G>A (p.Thr244=) rs749421617

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.