List of variants reported as likely pathogenic for Cowden syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	rs886042002	0.00001
NM_000314.8(PTEN):c.1023del (p.Phe341fs)	rs1564568689
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	rs869312775
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)	rs1554890348
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)	rs869312776
NM_000314.8(PTEN):c.423del (p.Arg142fs)	rs1859979785
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)	rs1057520622
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)	rs786202688
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)	rs869312777
NM_000314.8(PTEN):c.492+1G>A	rs1554898242
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)	rs121909239
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile)	rs1860618095
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)	rs398123329
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)	rs1589665853
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)	rs121913291
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)	rs2108425281
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)	rs863225060
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)	rs121913277

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