ClinVar Miner

List of variants in gene PTK2 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001352702.2(PTK2):c.1177+9092T>G rs7843014 0.58595
NM_001352702.2(PTK2):c.*705T>A rs7460 0.45969
NM_001352702.2(PTK2):c.1047G>T (p.Arg349=) rs139753749 0.00633
NM_001352702.2(PTK2):c.1065G>A (p.Ser355=) rs146407650 0.00487
NM_001352702.2(PTK2):c.2109C>T (p.Asp703=) rs139495370 0.00482
NM_001352702.2(PTK2):c.-18C>T rs200063070 0.00265
NM_001352702.2(PTK2):c.2070T>C (p.Pro690=) rs149694113 0.00218
NM_001352702.2(PTK2):c.645C>T (p.Val215=) rs148611560 0.00186
NM_001352702.2(PTK2):c.2610G>A (p.Glu870=) rs140437945 0.00172
NM_001352702.2(PTK2):c.2907C>T (p.Tyr969=) rs56114800 0.00141
NM_001352702.2(PTK2):c.2967C>T (p.Ala989=) rs55965948 0.00056

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.