ClinVar Miner

List of variants studied for Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694 0.00006
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020631.6(PLEKHG5):c.1973del (p.Ala658fs)
NM_020631.6(PLEKHG5):c.205_206del (p.Thr69fs)
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter) rs184242303
NM_020631.6(PLEKHG5):c.2347C>T (p.Gln783Ter)
NM_020631.6(PLEKHG5):c.2885C>A (p.Ser962Ter)
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
NM_020631.6(PLEKHG5):c.597del (p.Gly200fs)

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