ClinVar Miner

List of variants in gene PTEN studied for Cowden syndrome

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Total variants: 16
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NM_000314.7(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.7(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.7(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs) rs869312780
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.423del (p.Arg142fs)
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)

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