ClinVar Miner

List of variants in gene PACS1 reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98490
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00027
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_018026.4(PACS1):c.2358G>A (p.Ser786=) rs200716334 0.00021
NM_018026.4(PACS1):c.535-5C>T rs144180500 0.00014
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00013
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00011
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00010
NM_018026.4(PACS1):c.2412C>T (p.Ser804=) rs199759003 0.00006
NM_018026.4(PACS1):c.135G>T (p.Pro45=) rs778693310 0.00003
NM_018026.4(PACS1):c.1737G>A (p.Val579=) rs773764695 0.00002
NM_018026.4(PACS1):c.1506G>A (p.Val502=) rs759261910 0.00001
NM_018026.4(PACS1):c.2776+5G>A rs371976817 0.00001
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) rs2134698831 0.00001
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.162C>G (p.Thr54=) rs1209337870
NM_018026.4(PACS1):c.537C>T (p.Tyr179=) rs1477334036
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018026.4(PACS1):c.941C>T (p.Thr314Ile) rs1554990856

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.