ClinVar Miner

List of variants in gene PLEKHG5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP
NC_000001.11:g.6496769G>C rs145275535
NC_000001.11:g.6497400A>G rs549207658
NC_000001.11:g.6497544C>T rs112475272
NC_000001.11:g.6497563C>G rs147932947
NC_000001.11:g.6519461G>C rs17438786
NC_000001.11:g.6519593G>C rs41278014
NC_000001.11:g.6519783C>T rs1010584
NC_000001.11:g.6520176G>C rs4908903
NC_000001.11:g.6520190C>T rs4908904
NC_000001.11:g.6520337C>T rs12046229
NC_000001.11:g.6520369C>T rs11122043
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del rs536097668
NM_001265594.2(PLEKHG5):c.2737+65C>T rs886042289
NM_020631.5(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC rs374260108
NM_020631.5(PLEKHG5):c.-88+5868C>G rs145141925
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.1080+8G>C rs1553174495
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1132-6G>C rs1569860714
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1282-111T>C rs186051032
NM_020631.5(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=) rs772435791
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
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.1443G>A (p.Leu481=) rs1175716993
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.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=) rs373184968
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.1635C>T (p.Ile545=) rs1569851488
NM_020631.5(PLEKHG5):c.1681-8G>C rs139041955
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.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1748G>A (p.Arg583Gln) rs1553173791
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1800+107C>T rs3007421
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1935G>A (p.Gly645=) rs147140763
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
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.2281A>G (p.Met761Val) rs201647966
NM_020631.5(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
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.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.2598G>A (p.Leu866=) rs368328495
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.2610G>A (p.Pro870=) rs373880458
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.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
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.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.3012-113G>A rs9435269
NM_020631.5(PLEKHG5):c.3012-79C>T rs78137382
NM_020631.5(PLEKHG5):c.302+10G>T rs201663755
NM_020631.5(PLEKHG5):c.302+176T>C rs112653986
NM_020631.5(PLEKHG5):c.303-134C>T rs2986751
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.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.534G>T (p.Gly178=) rs1569875832
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.592-75C>A rs140246821
NM_020631.5(PLEKHG5):c.594C>G (p.Ala198=) rs1557745612
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320
NM_020631.5(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
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.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.777C>T (p.Ser259=) rs373244537
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.796-9T>G rs776663985
NM_020631.5(PLEKHG5):c.834C>T (p.His278=) rs368463952
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.87G>A (p.Pro29=) rs140892576
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.912_914del (p.Asp304del) rs1557744230
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470
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.985-2A>G rs1553174566
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.-88+6198G>T rs1472251626
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815
NM_020631.6(PLEKHG5):c.1843del (p.Thr615fs) rs1569845887
NM_198681.3(PLEKHG5):c.69C>T (p.Asp23=) rs200424270

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