ClinVar Miner

List of variants in gene PLEKHG5 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP
NC_000001.11:g.6520176G>C rs4908903
NC_000001.11:g.6520190C>T rs4908904
NM_020631.5(PLEKHG5):c.-73C>T rs189176513
NM_020631.5(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC rs374260108
NM_020631.5(PLEKHG5):c.-88+1192G>A rs11806429
NM_020631.5(PLEKHG5):c.-88+5868C>G rs145141925
NM_020631.5(PLEKHG5):c.-88+5G>A rs3007429
NM_020631.5(PLEKHG5):c.-88+6307T>A rs75490131
NM_020631.5(PLEKHG5):c.1023G>A (p.Val341=) rs199903533
NM_020631.5(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547
NM_020631.5(PLEKHG5):c.1080+131G>A rs75624694
NM_020631.5(PLEKHG5):c.1080+1G>A rs1553174500
NM_020631.5(PLEKHG5):c.1081-12C>T rs182398849
NM_020631.5(PLEKHG5):c.1081-19C>T rs1057524719
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.5(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1260C>T (p.Asp420=) rs1553174252
NM_020631.5(PLEKHG5):c.1282-111T>C rs186051032
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=) rs772435791
NM_020631.5(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601
NM_020631.5(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791
NM_020631.5(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.5(PLEKHG5):c.1392+40G>C rs181693536
NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450
NM_020631.5(PLEKHG5):c.1393-24dup rs111312565
NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg) rs534760199
NM_020631.5(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.5(PLEKHG5):c.150-11C>A rs369136414
NM_020631.5(PLEKHG5):c.150-13C>T rs373087396
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1517G>A (p.Arg506His) rs898550173
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1800+107C>T rs3007421
NM_020631.5(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.5(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861
NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) rs372405586
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221
NM_020631.5(PLEKHG5):c.1914C>T (p.Cys638=) rs373154779
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1933+18C>T rs369940156
NM_020631.5(PLEKHG5):c.2049+9A>G rs368743607
NM_020631.5(PLEKHG5):c.2050-17C>A rs1553173486
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.210+16G>T rs751082247
NM_020631.5(PLEKHG5):c.210+20C>T rs777308688
NM_020631.5(PLEKHG5):c.211-20C>T rs990630026
NM_020631.5(PLEKHG5):c.2127_2162dup (p.Asp709_Glu720dup) rs1553173380
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2142_2153dup (p.Glu720_Glu723dup) rs1553173393
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
NM_020631.5(PLEKHG5):c.2249+7C>G rs1057523000
NM_020631.5(PLEKHG5):c.2250-13C>T rs547780813
NM_020631.5(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338
NM_020631.5(PLEKHG5):c.2424G>A (p.Val808=) rs151184761
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144
NM_020631.5(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689
NM_020631.5(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
NM_020631.5(PLEKHG5):c.3012-113G>A rs9435269
NM_020631.5(PLEKHG5):c.3012-79C>T rs78137382
NM_020631.5(PLEKHG5):c.302+176T>C rs112653986
NM_020631.5(PLEKHG5):c.303-134C>T rs2986751
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.43+20G>T rs200779049
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-17G>A rs200894921
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.5(PLEKHG5):c.440-6A>G rs202049535
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His) rs750080171
NM_020631.5(PLEKHG5):c.591+28G>C rs76386795
NM_020631.5(PLEKHG5):c.591+52G>A rs58549010
NM_020631.5(PLEKHG5):c.591+71G>A rs74049586
NM_020631.5(PLEKHG5):c.592-14C>T rs554879611
NM_020631.5(PLEKHG5):c.592-75C>A rs140246821
NM_020631.5(PLEKHG5):c.621G>A (p.Ser207=) rs973366523
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.5(PLEKHG5):c.639G>A (p.Ala213=) rs560366406
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.795+8G>A rs114275646
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.84G>A (p.Pro28=) rs140428005
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312
NM_020631.5(PLEKHG5):c.984+13C>G rs202154066
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.99C>T (p.Pro33=) rs775878865
NM_020631.6(PLEKHG5):c.1843del (p.Thr615fs) rs1569845887
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup) rs113541584
NM_198681.4(PLEKHG5):c.-164-200C>G rs145275535
NM_198681.4(PLEKHG5):c.-164-380T>G rs3007430
NM_198681.4(PLEKHG5):c.-164-831T>C rs549207658
NM_198681.4(PLEKHG5):c.-164-975G>A rs112475272
NM_198681.4(PLEKHG5):c.-164-994G>C rs147932947
NM_198681.4(PLEKHG5):c.-181C>G rs17438786
NM_198681.4(PLEKHG5):c.-267G>A rs1556035
NM_198681.4(PLEKHG5):c.-313C>G rs41278014
NM_198681.4(PLEKHG5):c.-503G>A rs1010584

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