ClinVar Miner

List of variants reported as pathogenic for BAP1-related tumor predisposition syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP
NC_000003.11:g.(?_52436298)_(52443900_?)del
NM_004656.3(BAP1):c.1153C>T (p.Arg385Ter) rs1553645164
NM_004656.3(BAP1):c.1185dupA (p.Asp396Argfs) rs1553645136
NM_004656.3(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.3(BAP1):c.11delG (p.Gly4Alafs)
NM_004656.3(BAP1):c.1202_1203delAT (p.Tyr401Terfs) rs886058705
NM_004656.3(BAP1):c.1203_1214delTGAGGATGACGA (p.Tyr401_Gln729del) rs1553645117
NM_004656.3(BAP1):c.1358_1359delAA (p.Lys453Argfs) rs1351986946
NM_004656.3(BAP1):c.1379C>A (p.Ser460Ter) rs1553644949
NM_004656.3(BAP1):c.1416delG (p.Ser473Valfs) rs1060503731
NM_004656.3(BAP1):c.1464delC (p.Ser489Alafs) rs1553644922
NM_004656.3(BAP1):c.1474_1475delAG (p.Ser492Tyrfs)
NM_004656.3(BAP1):c.15G>A (p.Trp5Ter)
NM_004656.3(BAP1):c.1717delC (p.Leu573Trpfs) rs869025212
NM_004656.3(BAP1):c.1729+1delG
NM_004656.3(BAP1):c.178C>T (p.Arg60Ter)
NM_004656.3(BAP1):c.181A>T (p.Lys61Ter) rs1060503744
NM_004656.3(BAP1):c.1835delA (p.Lys612Argfs) rs1060503743
NM_004656.3(BAP1):c.1975A>T (p.Lys659Ter) rs1553644659
NM_004656.3(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.3(BAP1):c.510dupT (p.Val171Cysfs) rs1553645809
NM_004656.3(BAP1):c.517dupT (p.Tyr173Leufs) rs1553645806
NM_004656.3(BAP1):c.519T>G (p.Tyr173Ter) rs143901408
NM_004656.3(BAP1):c.544G>T (p.Glu182Ter) rs1060503726
NM_004656.3(BAP1):c.587G>A (p.Trp196Ter) rs1553645725
NM_004656.3(BAP1):c.592G>T (p.Glu198Ter) rs1553645720
NM_004656.3(BAP1):c.644delG (p.Gly215Alafs) rs1060503727
NM_004656.3(BAP1):c.65delT (p.Phe22Serfs) rs1060503735
NM_004656.3(BAP1):c.757C>T (p.Gln253Ter) rs776240891
NM_004656.3(BAP1):c.758dup (p.Thr254Aspfs) rs1553645591
NM_004656.3(BAP1):c.778C>T (p.Gln260Ter) rs864622592
NM_004656.3(BAP1):c.824delA (p.Lys275Serfs)
NM_004656.3(BAP1):c.831dup (p.Glu278Argfs) rs1553645497
NM_004656.3(BAP1):c.837dup (p.Gln280Thrfs) rs1553645492
NM_004656.3(BAP1):c.91delG (p.Glu31Argfs) rs1553646294

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