ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.*285C>T rs572888702 0.00066
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_020631.5(PLEKHG5):c.*1289C>G rs886046487 0.00029
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_020631.5(PLEKHG5):c.*1186A>G rs540290288 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00014
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993 0.00012
NM_020631.5(PLEKHG5):c.*1347G>T rs886046486 0.00011
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_020631.5(PLEKHG5):c.*801G>A rs886046491 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00008
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00007
NM_020631.5(PLEKHG5):c.*1332C>A rs538419041 0.00006
NM_020631.5(PLEKHG5):c.*1333C>T rs1157083758 0.00006
NM_020631.6(PLEKHG5):c.*304C>T rs549168459 0.00006
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_020631.5(PLEKHG5):c.*1087G>T rs761811347 0.00004
NM_020631.5(PLEKHG5):c.*816C>T rs1557731626 0.00004
NM_020631.6(PLEKHG5):c.*159G>A rs909809050 0.00004
NM_020631.6(PLEKHG5):c.*68C>T rs886046496 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.5(PLEKHG5):c.*1006C>T rs886046489 0.00002
NM_020631.5(PLEKHG5):c.*1354T>C rs886046485 0.00002
NM_020631.5(PLEKHG5):c.*905G>A rs886046490 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_020631.5(PLEKHG5):c.*1016A>G rs886046488 0.00001
NM_020631.5(PLEKHG5):c.*1374C>T rs1004946332 0.00001
NM_020631.5(PLEKHG5):c.*775T>G rs886046492 0.00001
NM_020631.6(PLEKHG5):c.*192G>A rs886046495 0.00001
NM_020631.6(PLEKHG5):c.*236G>A rs1308834107 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 0.00001
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser) rs768087057 0.00001
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380 0.00001
NM_020631.5(PLEKHG5):c.*555T>A rs886046494
NM_020631.5(PLEKHG5):c.*573G>A rs1644399627
NM_020631.5(PLEKHG5):c.*750delC rs886046493
NM_020631.5(PLEKHG5):c.*751delT rs372197062
NM_020631.5(PLEKHG5):c.*978dup rs553519753
NM_020631.6(PLEKHG5):c.*363C>G rs186882493
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro) rs759670081
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501

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