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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
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.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.1371C>T (p.Asp457=)	rs776561735	0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)	rs768995193	0.00001
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.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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