ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) rs759212541
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs)
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)

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