List of variants studied for Bannayan-Riley-Ruvalcaba syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	rs371387815	0.00009
NM_000314.8(PTEN):c.-844T>C	rs587779995	0.00003
NM_000314.8(PTEN):c.-687G>A	rs1858350110
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup)	rs1564814602
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	rs1339631701
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	rs1114167656
NM_000314.8(PTEN):c.475delinsCTT (p.Arg159fs)	rs2493719154
NM_000314.8(PTEN):c.548dup (p.Asn184fs)	rs1554900593
NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT	rs2493754990
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	rs1554825226
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	rs863224909

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