ClinVar Miner

List of variants in gene RAB11A reported as likely pathogenic for EEG abnormality; Coarse facial features; Delayed speech and language development; Intellectual disability, mild; Precocious puberty in females; Delayed fine motor development; Primary microcephaly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004663.5(RAB11A):c.335A>G (p.His112Arg)

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