ClinVar Miner

List of variants in gene PLEKHG5 studied for Distal spinal muscular atrophy

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Total variants: 94
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HGVS dbSNP
NM_020631.4(PLEKHG5):c.*1006C>T rs886046489
NM_020631.4(PLEKHG5):c.*1016A>G rs886046488
NM_020631.4(PLEKHG5):c.*1052G>A rs148036862
NM_020631.4(PLEKHG5):c.*108G>A rs11800788
NM_020631.4(PLEKHG5):c.*1158G>C rs2986754
NM_020631.4(PLEKHG5):c.*1289C>G rs886046487
NM_020631.4(PLEKHG5):c.*1304G>A rs45604837
NM_020631.4(PLEKHG5):c.*1313C>T rs45574533
NM_020631.4(PLEKHG5):c.*1347G>T rs886046486
NM_020631.4(PLEKHG5):c.*1354T>C rs886046485
NM_020631.4(PLEKHG5):c.*192G>A rs886046495
NM_020631.4(PLEKHG5):c.*27T>C rs117494970
NM_020631.4(PLEKHG5):c.*290T>C rs14708
NM_020631.4(PLEKHG5):c.*363C>G rs186882493
NM_020631.4(PLEKHG5):c.*555T>A rs886046494
NM_020631.4(PLEKHG5):c.*68C>T rs886046496
NM_020631.4(PLEKHG5):c.*697C>T rs3176900
NM_020631.4(PLEKHG5):c.*750delC rs886046493
NM_020631.4(PLEKHG5):c.*765T>A rs538175057
NM_020631.4(PLEKHG5):c.*765delT rs372197062
NM_020631.4(PLEKHG5):c.*775T>G rs886046492
NM_020631.4(PLEKHG5):c.*801G>A rs886046491
NM_020631.4(PLEKHG5):c.*843G>T rs12735472
NM_020631.4(PLEKHG5):c.*905G>A rs886046490
NM_020631.4(PLEKHG5):c.*981dupC rs553519753
NM_020631.4(PLEKHG5):c.*990C>T rs3007418
NM_020631.4(PLEKHG5):c.-88+5G>A rs3007429
NM_020631.4(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131
NM_020631.4(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741
NM_020631.4(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.4(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145
NM_020631.4(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745
NM_020631.4(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965
NM_020631.4(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047
NM_020631.4(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.4(PLEKHG5):c.1801-12C>A rs943584
NM_020631.4(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.4(PLEKHG5):c.2001T>C (p.Ser667=) rs730600
NM_020631.4(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.4(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.4(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695
NM_020631.4(PLEKHG5):c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.4(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.4(PLEKHG5):c.2166_2168delGGA (p.Glu723del) rs113541584
NM_020631.4(PLEKHG5):c.2166_2168dupGGA (p.Glu723_Gly724insGlu) rs113541584
NM_020631.4(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993
NM_020631.4(PLEKHG5):c.2249+4C>T rs751575330
NM_020631.4(PLEKHG5):c.22C>T (p.Arg8Cys) rs754002297
NM_020631.4(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150
NM_020631.4(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.4(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.4(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.4(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.4(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876
NM_020631.4(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.4(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.4(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.4(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.4(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.4(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161
NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.4(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.4(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.4(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.4(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.4(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.4(PLEKHG5):c.2759_2761delCTC (p.Pro920del) rs536097668
NM_020631.4(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.4(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497
NM_020631.4(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.4(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.4(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.4(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.4(PLEKHG5):c.43+13G>A rs78593902
NM_020631.4(PLEKHG5):c.43+14_43+20delGGAGCCG rs527883968
NM_020631.4(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514
NM_020631.4(PLEKHG5):c.439+12C>G rs778853521
NM_020631.4(PLEKHG5):c.440-10C>T rs201656051
NM_020631.4(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.4(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.4(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.4(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.4(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.4(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
NM_020631.4(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.4(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379
NM_020631.4(PLEKHG5):c.795+13A>G rs766753209
NM_020631.4(PLEKHG5):c.795+8G>A rs114275646
NM_020631.4(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501
NM_020631.4(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302
NM_020631.4(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.4(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.4(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.4(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399

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