ClinVar Miner

List of variants in gene PHKA2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
NM_000292.3(PHKA2):c.1964-3C>T
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
NM_000292.3(PHKA2):c.2517+5G>A
NM_000292.3(PHKA2):c.2597+2dup
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) rs1601700586
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) rs1601776489
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) rs1601685360
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) rs1601758342

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.