List of variants in gene PNKP reported as uncertain significance by Eurofins NTD LLC (GA)

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: 46

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)	rs116192442	0.00133
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.901C>T (p.Arg301Trp)	rs201503405	0.00061
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
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.893C>T (p.Ala298Val)	rs145615734	0.00037
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile)	rs115419706	0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys)	rs138931842	0.00033
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	rs140290151	0.00019
NM_007254.4(PNKP):c.1413T>C (p.His471=)	rs370017666	0.00016
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)	rs373922574	0.00010
NM_007254.4(PNKP):c.861G>C (p.Val287=)	rs75203375	0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	rs372148913	0.00005
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	rs772610025	0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser)	rs372459137	0.00004
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)	rs747244348	0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	rs886043128	0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu)	rs912223009	0.00003
NM_007254.4(PNKP):c.1030-5C>T	rs374745816	0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)	rs144257114	0.00002
NM_007254.4(PNKP):c.1125G>A (p.Gly375=)	rs727504101	0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)	rs768304312	0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	rs766655539	0.00001
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala)	rs727504100	0.00001
NM_007254.4(PNKP):c.602G>A (p.Arg201His)	rs150253619	0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	rs773641701	0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=)	rs794727920	0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)	rs398124249	0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val)	rs750224965	0.00001
NM_007254.4(PNKP):c.921C>A (p.Ser307=)	rs369985921	0.00001
NM_007254.4(PNKP):c.1298+7T>G	rs794727126
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys)	rs745801055
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	rs587784367
NM_007254.4(PNKP):c.499-5A>G	rs886042466
NM_007254.4(PNKP):c.666C>G (p.Ile222Met)	rs587784369
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser)	rs1555811378
NM_007254.4(PNKP):c.817-5C>G	rs398124250
NM_007254.4(PNKP):c.845G>A (p.Gly282Glu)	rs398124251
NM_007254.4(PNKP):c.865+9C>T	rs1555811201
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe)	rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del)	rs886042225

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