List of variants in gene PNKP reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	rs201503405	0.00061
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile)	rs115419706	0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys)	rs138931842	0.00033
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	rs772610025	0.00004
NM_007254.4(PNKP):c.636+1G>T	rs1247055716	0.00004
NM_007254.4(PNKP):c.758C>T (p.Thr253Met)	rs538161505	0.00001
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp)	rs551774481
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)	rs3739185
NM_007254.4(PNKP):c.578G>A (p.Arg193Lys)	rs1056754589
NM_007254.4(PNKP):c.773A>G (p.Tyr258Cys)
NM_007254.4(PNKP):c.816G>T (p.Gln272His)
NM_007254.4(PNKP):c.932G>C (p.Arg311Pro)	rs372435922
Single allele

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.