ClinVar Miner

List of variants in gene BAP1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1117-1G>A
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter) rs1553646284
NM_004656.4(BAP1):c.1251-1G>A rs1578221396
NM_004656.4(BAP1):c.1251-2A>G rs2153226773
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
NM_004656.4(BAP1):c.1730-2A>G rs2153226523
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.1A>T (p.Met1Leu)
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.249_255+15delinsAGACC
NM_004656.4(BAP1):c.255+1G>A rs1060503750
NM_004656.4(BAP1):c.256-2A>C rs2153228161
NM_004656.4(BAP1):c.376-1G>A rs2153227978
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.3G>C (p.Met1Ile)
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.438-1G>A rs2153227879
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004656.4(BAP1):c.553G>A (p.Gly185Arg) rs2153227788
NM_004656.4(BAP1):c.580+1G>T rs1553645785
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.59_67+1del
NM_004656.4(BAP1):c.606G>C (p.Trp202Cys)
NM_004656.4(BAP1):c.606G>T (p.Trp202Cys) rs868339867
NM_004656.4(BAP1):c.659+1G>T
NM_004656.4(BAP1):c.659+1del rs1064795667
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004656.4(BAP1):c.745_783+57delinsTGG
NM_004656.4(BAP1):c.784-2A>T rs1559589344

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