ClinVar Miner

List of variants studied for Macrocephaly-autism syndrome; Cowden syndrome 1 by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126

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