ClinVar Miner

List of variants in gene PNKP reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_007254.4(PNKP):c.*21A>C rs201872477
NM_007254.4(PNKP):c.*23A>C rs886054582
NM_007254.4(PNKP):c.-105G>A rs886054585
NM_007254.4(PNKP):c.-50G>C rs3739166
NM_007254.4(PNKP):c.-74G>A rs886054584
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.109C>G (p.Pro37Ala) rs536541839
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs) rs886054583
NM_007254.4(PNKP):c.1288_1298+1del rs1555810849
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1390C>A (p.Arg464=) rs138249970
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.579-5C>T rs767753048
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.636+7G>A rs3739187
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642

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.