ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
BAP1, 1-BP DEL, 1832C
BAP1, 4-BP DEL, 2008TCAC
NM_004656.4(BAP1):c.1305del (p.Gln436fs) rs587776877
NM_004656.4(BAP1):c.1654del (p.Asp552fs) rs397509414
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.2057-2A>G rs587776878
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004656.4(BAP1):c.438-2A>G rs587776879
NM_004656.4(BAP1):c.78_79del (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter) rs387906849

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