ClinVar Miner

List of variants in gene PLEKHG5 reported as pathogenic for Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c

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Total variants: 5
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val)
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)
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs)

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