ClinVar Miner

List of variants in gene PLEKHG5 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del rs536097668
NM_001265594.2(PLEKHG5):c.2738-22C>G rs923660925
NM_001265594.2(PLEKHG5):c.2738-46C>G rs1388065890
NM_020631.5(PLEKHG5):c.-73C>T rs189176513
NM_020631.5(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528
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.1080+131G>A rs75624694
NM_020631.5(PLEKHG5):c.1081-12C>T rs182398849
NM_020631.5(PLEKHG5):c.1081-19C>T rs1057524719
NM_020631.5(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.5(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.5(PLEKHG5):c.1132-6G>C rs1569860714
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.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1260C>T (p.Asp420=) rs1553174252
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=) rs772435791
NM_020631.5(PLEKHG5):c.1302C>T (p.Pro434=) rs755428930
NM_020631.5(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
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.1443G>A (p.Leu481=) rs1175716993
NM_020631.5(PLEKHG5):c.150-11C>A rs369136414
NM_020631.5(PLEKHG5):c.150-13C>T rs373087396
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.1545C>T (p.Ile515=) rs762389784
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=) rs373184968
NM_020631.5(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852
NM_020631.5(PLEKHG5):c.1614G>T (p.Leu538=) rs754624083
NM_020631.5(PLEKHG5):c.1635C>T (p.Ile545=) rs1569851488
NM_020631.5(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624
NM_020631.5(PLEKHG5):c.1681-8G>C rs139041955
NM_020631.5(PLEKHG5):c.1707C>T (p.Asp569=) rs1033319065
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
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.1883G>A (p.Arg628Lys) rs144245744
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.1935G>A (p.Gly645=) rs147140763
NM_020631.5(PLEKHG5):c.2034C>T (p.Thr678=) rs755808760
NM_020631.5(PLEKHG5):c.2049+10G>A rs1478987550
NM_020631.5(PLEKHG5):c.2049+9A>G rs368743607
NM_020631.5(PLEKHG5):c.2050-17C>A rs1553173486
NM_020631.5(PLEKHG5):c.2056C>T (p.Leu686=) rs1569842648
NM_020631.5(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808
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.2124G>A (p.Glu708=) rs370521517
NM_020631.5(PLEKHG5):c.2127_2162dup (p.Asp709_Glu720dup) rs1553173380
NM_020631.5(PLEKHG5):c.2142_2153dup (p.Glu720_Glu723dup) rs1553173393
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
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.2235C>T (p.Pro745=) rs1323858843
NM_020631.5(PLEKHG5):c.2244G>A (p.Gln748=) rs1569839599
NM_020631.5(PLEKHG5):c.2249+7C>G rs1057523000
NM_020631.5(PLEKHG5):c.2250-13C>T rs547780813
NM_020631.5(PLEKHG5):c.2319C>G (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.2427C>T (p.Asp809=) rs369876443
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.2538C>A (p.Ser846=) rs776995250
NM_020631.5(PLEKHG5):c.2598G>A (p.Leu866=) rs368328495
NM_020631.5(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2676T>C (p.His892=) rs758308121
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.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.2811C>T (p.Ser937=) rs1232546435
NM_020631.5(PLEKHG5):c.2826C>T (p.Val942=) rs749891873
NM_020631.5(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
NM_020631.5(PLEKHG5):c.3012-79C>T rs78137382
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
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.399C>T (p.Phe133=) rs369888151
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.5(PLEKHG5):c.43+20G>T rs200779049
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.440-17G>A rs200894921
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.509C>T (p.Pro170Leu) rs59117380
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.534G>T (p.Gly178=) rs1569875832
NM_020631.5(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.5(PLEKHG5):c.592-75C>A rs140246821
NM_020631.5(PLEKHG5):c.594C>G (p.Ala198=) rs1557745612
NM_020631.5(PLEKHG5):c.621G>A (p.Ser207=) rs973366523
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.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.765C>T (p.Ser255=) rs566596803
NM_020631.5(PLEKHG5):c.768C>T (p.Ser256=) rs780935962
NM_020631.5(PLEKHG5):c.777C>T (p.Ser259=) rs373244537
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.813G>A (p.Glu271=) rs777414805
NM_020631.5(PLEKHG5):c.834C>T (p.His278=) rs368463952
NM_020631.5(PLEKHG5):c.84G>A (p.Pro28=) rs140428005
NM_020631.5(PLEKHG5):c.87G>A (p.Pro29=) rs140892576
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.903G>A (p.Glu301=) rs780277728
NM_020631.5(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021
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.984+13C>G rs202154066
NM_020631.5(PLEKHG5):c.984+8C>T rs373560661
NM_020631.5(PLEKHG5):c.985-6C>T rs1371350296
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.99C>T (p.Pro33=) rs775878865
NM_020631.6(PLEKHG5):c.-113C>A
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=)
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=)
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=)
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=)
NM_020631.6(PLEKHG5):c.1132-8G>T
NM_020631.6(PLEKHG5):c.1152C>T (p.Phe384=)
NM_020631.6(PLEKHG5):c.1227G>C (p.Ala409=)
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=)
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=)
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=)
NM_020631.6(PLEKHG5):c.1393-5C>T
NM_020631.6(PLEKHG5):c.1423C>T (p.Leu475=)
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=)
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=)
NM_020631.6(PLEKHG5):c.1543-5C>T
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=)
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=)
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=)
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=)
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=)
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=)
NM_020631.6(PLEKHG5):c.2142A>G (p.Glu714=)
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_020631.6(PLEKHG5):c.2148G>A (p.Glu716=)
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=)
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=)
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=)
NM_020631.6(PLEKHG5):c.2325C>T (p.Phe775=)
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=)
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=)
NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=)
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=)
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=)
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=)
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=)
NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=)
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=)
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=)
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=)
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=)
NM_020631.6(PLEKHG5):c.440-9C>T
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=)
NM_020631.6(PLEKHG5):c.591+9G>C
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=)
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=)
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=)
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=)
NM_020631.6(PLEKHG5):c.984+7G>A
NM_198681.4(PLEKHG5):c.-164-200C>G rs145275535
NM_198681.4(PLEKHG5):c.-164-831T>C rs549207658
NM_198681.4(PLEKHG5):c.-181C>G rs17438786

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