ClinVar Miner

List of variants in gene PTPRQ reported as benign for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.1187-38T>A rs7311413 0.86872
NM_001145026.2(PTPRQ):c.2272+15_2272+16insG rs56929349 0.85402
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) rs10778752 0.84044
NM_001145026.2(PTPRQ):c.3155-34A>T rs11114502 0.54055
NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=) rs12824064 0.52337
NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys) rs11114486 0.49400
NM_001145026.2(PTPRQ):c.5943-6T>C rs1528289 0.08370
NM_001145026.2(PTPRQ):c.6115+23_6115+24dup rs10652830 0.06545
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_001145026.2(PTPRQ):c.1187-27dup rs56351124
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) rs368946018
NM_001145026.2(PTPRQ):c.1882+16TTG[7] rs58537253
NM_001145026.2(PTPRQ):c.6453+21C>T rs1163041

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.