ClinVar Miner

List of variants in gene BAP1 reported as pathogenic by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.438-2A>G rs587776879 0.00001
NM_004656.4(BAP1):c.1305del (p.Gln436fs) rs587776877
NM_004656.4(BAP1):c.1654del (p.Asp552fs) rs397509414
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004656.4(BAP1):c.34C>A (p.Pro12Thr) rs2153228682
NM_004656.4(BAP1):c.34C>G (p.Pro12Ala) rs2153228682
NM_004656.4(BAP1):c.506A>G (p.His169Arg) rs2153227828
NM_004656.4(BAP1):c.78_79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849

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