ClinVar Miner

List of variants in gene PNKP reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.4(PNKP):c.1189-2A>C rs767645983
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1293_1298+2dup rs796052861
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs) rs886037744
NM_007254.4(PNKP):c.1386+1G>A rs1057520630
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs) rs1555810613
NM_007254.4(PNKP):c.490C>T (p.Gln164Ter) rs375781731
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850
NM_007254.4(PNKP):c.636+1G>T rs1247055716
NM_007254.4(PNKP):c.63del (p.Ile22fs)
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116

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.