ClinVar Miner

List of variants reported as uncertain significance for Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c

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Total variants: 169
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HGVS dbSNP
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.1112A>C (p.Glu371Ala) rs1569861657
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) rs760139855
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val) rs374286001
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569
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) rs1569857188
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651
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) rs1382976948
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys) rs552364487
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) rs868002197
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.5(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965
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.1681-27_1681-3dup rs748372368
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.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499
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.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
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) rs936501984
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) 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.2160_2163delinsA (p.Glu723del) rs386628081
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) rs189468475
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) rs1569839599
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu) rs1400722803
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His) rs891527256
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935
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) rs770870023
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
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) rs150666859
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys) rs557256913
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=) rs1569832075
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala) rs753662166
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) rs376237905
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.5(PLEKHG5):c.2864A>G (p.Lys955Arg) rs771066341
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=) rs749015188
NM_020631.5(PLEKHG5):c.2932G>C (p.Ala978Pro) rs368905339
NM_020631.5(PLEKHG5):c.2933C>T (p.Ala978Val) rs150133974
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380
NM_020631.5(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.5(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser) rs140687324
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg) rs769529781
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His) rs150152888
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys) rs201090415
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His) rs770010475
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) rs1159602956
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437
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.707C>T (p.Thr236Ile) rs1180691543
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.745C>T (p.Arg249Cys) rs1436222408
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe) rs376782083
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro) rs550362834
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser) rs201267486
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) rs998963899
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His) rs199745947
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
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.995G>A (p.Arg332Gln) rs769390222
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=)
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
NM_020631.6(PLEKHG5):c.211-3C>T
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)

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