ClinVar Miner

List of variants in gene PCARE reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051 0.00126
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350 0.00006
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001029883.3(PCARE):c.2697C>T (p.Ser899=) rs1558488488
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654

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.