ClinVar Miner

List of variants in gene PLEKHG5 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441 0.00029
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275 0.00007
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) rs373184968 0.00004
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780 0.00004
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203 0.00003
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.796-9T>G rs776663985
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621

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