List of variants in gene combination ANGPT2, MCPH1 reported as uncertain significance 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)	rs199861426	0.00086
NM_024596.5(MCPH1):c.2199C>G (p.His733Gln)	rs202015253	0.00016
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)	rs201599657	0.00013
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)	rs759545352	0.00011
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=)	rs35344839	0.00007
NM_024596.5(MCPH1):c.2137-7C>T	rs375022779	0.00006
NM_024596.5(MCPH1):c.2214+13834T>G

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