ClinVar Miner

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

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_020631.4(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456
NM_020631.4(PLEKHG5):c.2366_2367delTC (p.Leu789Glnfs) rs759212541
NM_020631.4(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.4(PLEKHG5):c.2542C>T (p.Arg848Ter)
NM_020631.4(PLEKHG5):c.912_918dup (p.Glu307Terfs) rs397515455
NM_198681.3(PLEKHG5):c.269del (p.Pro90Hisfs) rs397515454

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