ClinVar Miner

List of variants studied for AKT3-related overgrowth spectrum by Qatar Biomedical Research Institute, Hamad Bin Khalifa University

Included ClinVar conditions (1):

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	rs1064796765

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