ClinVar Miner

List of variants in gene PLEKHG5 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
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.1098C>G (p.Leu366=) rs1553174372
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1302C>T (p.Pro434=) rs755428930
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
NM_020631.5(PLEKHG5):c.1545C>T (p.Ile515=) rs762389784
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.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.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.2034C>T (p.Thr678=) rs755808760
NM_020631.5(PLEKHG5):c.2049+10G>A rs1478987550
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.2124G>A (p.Glu708=) rs370521517
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.2319C>G (p.Pro773=) rs80031446
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.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.5(PLEKHG5):c.2892C>G (p.Ala964=) rs1388065890
NM_020631.5(PLEKHG5):c.2916C>G (p.Pro972=) rs923660925
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
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.399C>T (p.Phe133=) rs369888151
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
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.639G>A (p.Ala213=) rs560366406
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
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.783C>T (p.Ser261=) rs61738905
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.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
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

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