ClinVar Miner

List of variants in gene PNKP reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.151+205A>C rs2305922 0.50177
NM_007254.4(PNKP):c.151+245G>A rs2257103 0.39511
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_007254.4(PNKP):c.199-200_199-197del rs67332536 0.35416
NM_007254.4(PNKP):c.498+268G>T rs3729641 0.16975
NM_007254.4(PNKP):c.199-170G>A rs3739177 0.07008
NM_007254.4(PNKP):c.498+111C>T rs3739180 0.03516
NM_007254.4(PNKP):c.-14+87C>T rs3729530 0.03274
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_007254.4(PNKP):c.199-297G>C rs3739176 0.02241
NM_007254.4(PNKP):c.817-47C>T rs3739198 0.01670
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_007254.4(PNKP):c.637-27C>T rs3739188 0.01043
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_007254.4(PNKP):c.-50G>C rs3739166 0.00413
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_007254.4(PNKP):c.816+20C>T rs372038893 0.00059
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.936+16C>G rs369723968 0.00010
NM_007254.4(PNKP):c.151+11C>T rs587781113 0.00009
NM_007254.4(PNKP):c.151+18T>G rs55756709 0.00009
NM_007254.4(PNKP):c.1298+19C>T rs541129252 0.00007
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) rs755340060 0.00006
NM_007254.4(PNKP):c.1126+9C>T rs3739202 0.00004
NM_007254.4(PNKP):c.1329C>T (p.Val443=) rs796052846 0.00004
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164 0.00004
NM_007254.4(PNKP):c.1449-19C>A rs772322533 0.00004
NM_007254.4(PNKP):c.937-10C>T rs376801468 0.00002
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360 0.00001
NC_000019.10:g.49867591TGGG[1] rs3739164
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1320C>G (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1495C>T (p.Leu499=) rs587781114
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.817-169G>T rs1290647
NM_007254.4(PNKP):c.936+13dup rs3739200

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