ClinVar Miner

List of variants reported as likely pathogenic for microcephaly with intellectual disability by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):

Microcephaly 1, primary, autosomal recessive

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_024596.5(MCPH1):c.128T>C (p.Phe43Ser)	rs587783733	0.00002
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)	rs1554496609
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)	rs587783741

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