ClinVar Miner

List of variants studied for Cowden syndrome by Cancer Variant Interpretation Group UK, Institute of Cancer Research, London

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329

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