List of variants in gene PNKP reported as likely benign by Ambry Genetics

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.*15C>T	rs1050332	0.00609
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.1497G>A (p.Leu499=)	rs142199280	0.00232
NM_007254.4(PNKP):c.579G>A (p.Arg193=)	rs145904995	0.00205
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.650C>G (p.Thr217Ser)	rs115259839	0.00112
NM_007254.4(PNKP):c.501G>A (p.Val167=)	rs142143566	0.00071
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.627G>A (p.Glu209=)	rs532550120	0.00040
NM_007254.4(PNKP):c.678G>A (p.Lys226=)	rs141969535	0.00021
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)	rs770775129	0.00019
NM_007254.4(PNKP):c.1257C>T (p.Val419=)	rs369003964	0.00013
NM_007254.4(PNKP):c.1515A>G (p.Leu505=)	rs369748873	0.00007
NM_007254.4(PNKP):c.1401G>A (p.Thr467=)	rs374547164	0.00004
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)	rs747244348	0.00003
NM_007254.4(PNKP):c.1482C>T (p.Gly494=)	rs60279874	0.00003
NM_007254.4(PNKP):c.403C>T (p.Leu135=)	rs766739774	0.00003
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser)	rs756169949	0.00002
NM_007254.4(PNKP):c.687C>T (p.Ala229=)	rs776236270	0.00002
NM_007254.4(PNKP):c.1233A>G (p.Thr411=)	rs1057522305	0.00001
NM_007254.4(PNKP):c.1323G>A (p.Ala441=)	rs778138676	0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=)	rs771913446	0.00001
NM_007254.4(PNKP):c.267G>T (p.Val89=)	rs531640505	0.00001
NM_007254.4(PNKP):c.564C>T (p.Gly188=)	rs574408360	0.00001
NM_007254.4(PNKP):c.897G>A (p.Pro299=)	rs767771095	0.00001
NM_007254.4(PNKP):c.987C>T (p.Leu329=)	rs150644303	0.00001
NM_007254.4(PNKP):c.1236C>T (p.Ala412=)	rs1060504641
NM_007254.4(PNKP):c.1286_1298+6dup	rs760249644
NM_007254.4(PNKP):c.1326C>T (p.Gly442=)	rs1159488769
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	rs376854895
NM_007254.4(PNKP):c.255C>T (p.Gly85=)	rs1568662321
NM_007254.4(PNKP):c.408G>A (p.Pro136=)	rs770822417
NM_007254.4(PNKP):c.81C>T (p.Asp27=)	rs1226961947

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