ClinVar Miner

List of variants studied for Macrocephaly-autism syndrome by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.226dup (p.Tyr76fs) rs1564828960
NM_000314.8(PTEN):c.436_437insG (p.Leu146fs) rs2493718556
NM_000314.8(PTEN):c.49C>G (p.Gln17Glu) rs786204910

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