ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.5(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624
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.2124G>A (p.Glu708=) rs370521517
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
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.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021

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