ClinVar Miner

List of variants reported as uncertain significance for microcephaly with intellectual disability by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)	rs572671721
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)

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