ClinVar Miner

List of variants in gene PLEKHG5 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP
NM_020631.4(PLEKHG5):c.1681-27_1681-3dup rs748372368
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.1066C>T (p.Arg356Trp) rs764053619
NM_020631.5(PLEKHG5):c.1081-3C>T rs772519809
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala)
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) rs760139855
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val)
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met)
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln)
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe)
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr)
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys)
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys)
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly)
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg)
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys)
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr)
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.5(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933
NM_020631.5(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624
NM_020631.5(PLEKHG5):c.1681-8G>C rs139041955
NM_020631.5(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
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.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu)
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
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.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser)
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808
NM_020631.5(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala)
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup) rs1553173388
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp)
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His)
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val)
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.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338
NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) rs759212541
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu)
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=)
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys)
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His)
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr)
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.2458G>C (p.Gly820Arg) rs202191898
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp)
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter)
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys)
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys)
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.260T>C (p.Ile87Thr) rs117505788
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.2664G>T (p.Gly888=)
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala)
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760
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.2789G>T (p.Arg930Leu)
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser)
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.5(PLEKHG5):c.2864A>G (p.Lys955Arg)
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.286_288AAG[2] (p.Lys98del) rs781153386
NM_020631.5(PLEKHG5):c.2886G>A (p.Ser962=)
NM_020631.5(PLEKHG5):c.2932G>C (p.Ala978Pro)
NM_020631.5(PLEKHG5):c.2933C>T (p.Ala978Val)
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys)
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met)
NM_020631.5(PLEKHG5):c.3011+6T>C
NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.5(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu)
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser)
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.5(PLEKHG5):c.38del (p.Pro13fs) rs397515454
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg)
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His)
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.5(PLEKHG5):c.440-6A>G rs202049535
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs)
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys)
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.495G>C (p.Lys165Asn)
NM_020631.5(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380
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.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His)
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val)
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln)
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
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.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543
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.745C>T (p.Arg249Cys)
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro)
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe)
NM_020631.5(PLEKHG5):c.771C>G (p.Gly257=) rs200400689
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro)
NM_020631.5(PLEKHG5):c.795+8G>A rs114275646
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr)
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser)
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu)
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
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.89G>A (p.Arg30His)
NM_020631.5(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
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.931A>C (p.Asn311His) rs146020517
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln)
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln)

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