ClinVar Miner

List of variants in gene combination ANGPT2, MCPH1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001118887.2(ANGPT2):c.735G>A (p.Gln245=) rs3020221 0.34941
NM_001118887.2(ANGPT2):c.879G>A (p.Thr293=) rs1961222 0.23224
NM_001118887.2(ANGPT2):c.1104T>C (p.Tyr368=) rs2916747 0.12886
NM_001118887.2(ANGPT2):c.1092T>C (p.Asn364=) rs17063434 0.06336
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_001118887.2(ANGPT2):c.408G>C (p.Ala136=) rs6559167
NM_001118887.2(ANGPT2):c.408G>T (p.Ala136=) rs6559167

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