List of variants in gene PNKP reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.*15C>T	rs1050332	0.00609
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	rs146478958	0.00280
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
NM_007254.4(PNKP):c.627G>A (p.Glu209=)	rs532550120	0.00040
NM_007254.4(PNKP):c.876A>G (p.Gly292=)	rs3739199	0.00033
NM_007254.4(PNKP):c.671G>A (p.Arg224His)	rs199705876	0.00025
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)	rs201221600	0.00013
NM_007254.4(PNKP):c.579-4G>A	rs371834726	0.00011
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)	rs761117623	0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)	rs373922574	0.00010
NM_007254.4(PNKP):c.151+18T>G	rs55756709	0.00009
NM_007254.4(PNKP):c.861G>C (p.Val287=)	rs75203375	0.00005
NM_007254.4(PNKP):c.1126+9C>T	rs3739202	0.00004
NM_007254.4(PNKP):c.1418C>T (p.Pro473Leu)	rs200014111	0.00002
NM_007254.4(PNKP):c.498G>A (p.Lys166=)	rs141251138	0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=)	rs571119317	0.00001
NM_007254.4(PNKP):c.741C>T (p.Phe247=)	rs767980504	0.00001
NM_007254.4(PNKP):c.744+8T>C	rs587784370	0.00001
NM_007254.4(PNKP):c.995C>T (p.Pro332Leu)	rs978778913	0.00001
NM_007254.4(PNKP):c.1052C>G (p.Pro351Arg)	rs797045891
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)	rs377688490
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	rs376854895
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)	rs60279874
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)	rs760131892
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	rs587784367
NM_007254.4(PNKP):c.457T>C (p.Leu153=)	rs587784368
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr)	rs1555811465
NM_007254.4(PNKP):c.613G>A (p.Glu205Lys)	rs1555811461
NM_007254.4(PNKP):c.666C>T (p.Ile222=)	rs587784369
NM_007254.4(PNKP):c.936+13dup	rs3739200
NM_007254.4(PNKP):c.959C>A (p.Pro320His)	rs1428228072

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