Variants in gene PNKP with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 20

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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.1413T>C (p.His471=)	rs370017666	0.00016
NM_007254.4(PNKP):c.579-4G>A	rs371834726	0.00011
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)	rs747244348	0.00003
NM_007254.4(PNKP):c.1030-5C>T	rs374745816	0.00002
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)	rs570013652	0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=)	rs571119317	0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=)	rs794727920	0.00001
NM_007254.4(PNKP):c.1188+8del	rs763782151
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.1545C>T (p.Tyr515=)	rs760131892

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