List of variants in gene PLEKHG5 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)	rs77134982	0.00334
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)	rs61730399	0.00247
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)	rs141032388	0.00209
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)	rs140202670	0.00108
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)	rs150666859	0.00019
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)	rs143585428	0.00016
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)	rs187886272	0.00014
NM_020631.6(PLEKHG5):c.1681-8G>C	rs139041955	0.00013
NM_198681.4(PLEKHG5):c.-163C>T	rs200424270	0.00010
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)	rs144245744	0.00007
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp)	rs764053619	0.00006
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)	rs761272621	0.00003
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)	rs377503203	0.00003
NM_020631.6(PLEKHG5):c.-88+6198G>T	rs1472251626	0.00001
NM_020631.6(PLEKHG5):c.1080+8G>C	rs1553174495	0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)	rs1242593815	0.00001
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe)	rs1569865500
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)	rs1557739505
NM_020631.6(PLEKHG5):c.1748G>A (p.Arg583Gln)	rs1553173791
NM_020631.6(PLEKHG5):c.2118GGA[4] (p.Glu708_Asp709insGlu)
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)	rs148232621

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