Variants in gene PHKA2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)	rs17313469	0.02052
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	rs143732206	0.00657
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)	rs16980929	0.00520
NM_000292.3(PHKA2):c.2806+13C>A	rs186550641	0.00296
NM_000292.3(PHKA2):c.3282+13G>A	rs200925279	0.00267
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)	rs146631734	0.00207
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)	rs149219369	0.00135
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=)	rs144151433	0.00083
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	rs150764699	0.00076
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)	rs144591812	0.00045
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	rs201183167	0.00038

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.