ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
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.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528 0.00138
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380 0.00137
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
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_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441 0.00029
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_198681.4(PLEKHG5):c.-99C>T rs373594469 0.00023
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591 0.00019
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.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00014
NM_020631.6(PLEKHG5):c.1681-8G>C rs139041955 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_198681.4(PLEKHG5):c.-163C>T rs200424270 0.00010
NM_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00009
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
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.541G>A (p.Ala181Thr) rs527341275 0.00007
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140 0.00007
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638 0.00006
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313 0.00006
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp) rs139188442 0.00006
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662 0.00006
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00005
NM_020631.6(PLEKHG5):c.1469A>G (p.Lys490Arg) rs534760199 0.00004
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.2021G>A (p.Gly674Asp) rs772414205 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 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.793C>T (p.Arg265Trp) rs879253921 0.00004
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 0.00003
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668 0.00003
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735 0.00003
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203 0.00003
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569 0.00002
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met) rs376903637 0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966 0.00002
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.2579G>A (p.Arg860His) rs765235144 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416 0.00002
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850 0.00002
NM_020631.6(PLEKHG5):c.-88+6198G>T rs1472251626 0.00001
NM_020631.6(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547 0.00001
NM_020631.6(PLEKHG5):c.1080+8G>C rs1553174495 0.00001
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406 0.00001
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly) rs1327802744 0.00001
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450 0.00001
NM_020631.6(PLEKHG5):c.1430T>A (p.Leu477Gln) rs1469963388 0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815 0.00001
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612 0.00001
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772 0.00001
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg) rs1407992685 0.00001
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 0.00001
NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His) rs750080171 0.00001
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320 0.00001
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg) rs569434019 0.00001
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899 0.00001
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470 0.00001
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe) rs1569865500
NM_020631.6(PLEKHG5):c.1102A>T (p.Asn368Tyr) rs921634361
NM_020631.6(PLEKHG5):c.112GAG[7] (p.Glu43_Ser44insGlu)
NM_020631.6(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1392+5G>A rs2148583512
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
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.1826C>A (p.Thr609Lys) rs553151077
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.2048A>G (p.Gln683Arg) rs1381617999
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
NM_020631.6(PLEKHG5):c.2084C>T (p.Pro695Leu)
NM_020631.6(PLEKHG5):c.2118GGA[4] (p.Glu708_Asp709insGlu)
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) 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.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.6(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val) rs2148591435
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu) rs150152888
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) rs372602993
NM_020631.6(PLEKHG5):c.55G>C (p.Ala19Pro) rs770387842
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.64G>T (p.Val22Leu) rs112530241
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.796-9T>G rs776663985
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020631.6(PLEKHG5):c.915_923del (p.Glu305_Glu307del)
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_198681.4(PLEKHG5):c.-120C>T rs201669114

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.