ClinVar Miner

List of variants reported as uncertain significance for intellectual developmental disorder with autism and macrocephaly by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1):

Intellectual developmental disorder with autism and macrocephaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg)	rs765569494
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)

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