List of variants in gene PNKP reported as benign for not specified

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1189-10del	rs3739205	0.02593
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)	rs3739186	0.01081
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.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.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.1126+9C>T	rs3739202	0.00004
NM_007254.4(PNKP):c.1329C>T (p.Val443=)	rs796052846	0.00004
NM_007254.4(PNKP):c.1449-19C>A	rs772322533	0.00004
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)	rs549000007	0.00003
NM_007254.4(PNKP):c.817-12C>T	rs369567366	0.00003
NM_007254.4(PNKP):c.937-10C>T	rs376801468	0.00002
NM_007254.4(PNKP):c.564C>T (p.Gly188=)	rs574408360	0.00001
NM_007254.4(PNKP):c.1189-22_1189-19del	rs368832563
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.936+13dup	rs3739200

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