ClinVar Miner

List of variants in gene PLEKHG5 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=) rs373184968
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.2001T>C (p.Ser667=) rs730600
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[7] (p.Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.5(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695
NM_020631.5(PLEKHG5):c.2293G>C (p.Glu765Gln)
NM_020631.5(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150
NM_020631.5(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.5(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
NM_020631.5(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.796-9T>G rs776663985
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621

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.