ClinVar Miner

List of variants in gene PLEKHG5 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198681.4(PLEKHG5):c.-503G>A rs1010584 0.76606
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.*290T>C rs14708 0.27269
NM_020631.6(PLEKHG5):c.-88+5858G>A rs6693457 0.25085
NM_020631.6(PLEKHG5):c.3012-113G>A rs9435269 0.20413
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_020631.6(PLEKHG5):c.1800+107C>T rs3007421 0.18161
NM_198681.4(PLEKHG5):c.-313C>G rs41278014 0.15281
NM_020631.6(PLEKHG5):c.302+59T>C rs77777178 0.14105
NM_020631.6(PLEKHG5):c.303-134C>T rs2986751 0.13544
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.6(PLEKHG5):c.-88+5868C>G rs145141925 0.08529
NM_020631.6(PLEKHG5):c.302+176T>C rs112653986 0.08278
NM_020631.6(PLEKHG5):c.1801-87C>G rs3007420 0.07044
NM_020631.6(PLEKHG5):c.1801-71G>A rs77492523 0.07026
NM_020631.6(PLEKHG5):c.591+71G>A rs74049586 0.06730
NM_020631.6(PLEKHG5):c.591+52G>A rs58549010 0.06723
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_198681.4(PLEKHG5):c.-164-975G>A rs112475272 0.06110
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
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.1179G>A (p.Leu393=) rs112471131 0.05506
NM_198681.4(PLEKHG5):c.-164-994G>C rs147932947 0.05130
NM_020631.6(PLEKHG5):c.1081-98G>A rs75682285 0.04748
NM_020631.6(PLEKHG5):c.-88+5779C>G rs116507160 0.03644
NM_020631.6(PLEKHG5):c.-88+6634G>T rs3007424 0.03349
NM_020631.6(PLEKHG5):c.211-44C>T rs113224596 0.03153
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.592-51G>A rs74049585 0.02563
NM_020631.6(PLEKHG5):c.591+69C>G rs74049587 0.02548
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.-88+6188G>A rs577217925 0.02161
NM_198681.4(PLEKHG5):c.-164-664C>T rs181025240 0.02133
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.1282-193C>T rs150855955 0.01624
NM_020631.6(PLEKHG5):c.1282-111T>C rs186051032 0.01611
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
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.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.302+10G>T rs201663755 0.00003
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.-88+1153_-88+1160del rs141955211
NM_020631.6(PLEKHG5):c.-88+5658_-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.-88+5659del rs372606355
NM_020631.6(PLEKHG5):c.-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_020631.6(PLEKHG5):c.1542+28C>A rs75081587
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.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.591+28G>C rs76386795

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.