List of variants in gene combination ANGPT2, MCPH1 reported as likely pathogenic for microcephaly with intellectual disability

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Gene type: Distinguish antisense genes from sense genes
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.2145G>A (p.Trp715Ter)	rs201599657	0.00013
NM_024596.5(MCPH1):c.2214+2T>C	rs575037500	0.00001
NM_024596.5(MCPH1):c.2195_2196del (p.His732fs)
NM_024596.5(MCPH1):c.2214+1G>A

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