ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP
NM_004656.4(BAP1):c.1029C>T (p.Leu343=) rs1553645304
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425
NM_004656.4(BAP1):c.1251-7C>T rs756136482
NM_004656.4(BAP1):c.1527G>A (p.Ser509=) rs756500771
NM_004656.4(BAP1):c.1551G>A (p.Thr517=) rs145158446
NM_004656.4(BAP1):c.162A>G (p.Glu54=) rs1553646029
NM_004656.4(BAP1):c.174C>G (p.Ser58=) rs776102639
NM_004656.4(BAP1):c.1842G>A (p.Gly614=) rs781269263
NM_004656.4(BAP1):c.1842G>C (p.Gly614=) rs781269263
NM_004656.4(BAP1):c.1890+10C>T rs776553452
NM_004656.4(BAP1):c.1947C>T (p.Cys649=) rs1041287605
NM_004656.4(BAP1):c.1983+8A>G rs1271117477
NM_004656.4(BAP1):c.1984-9C>G rs1482074290
NM_004656.4(BAP1):c.2016T>C (p.Asp672=) rs1553644629
NM_004656.4(BAP1):c.216T>C (p.Ile72=) rs1257200755
NM_004656.4(BAP1):c.360G>A (p.Lys120=) rs749405309
NM_004656.4(BAP1):c.37+9G>A rs1440785228
NM_004656.4(BAP1):c.38-7del rs775275930
NM_004656.4(BAP1):c.477T>C (p.Leu159=) rs1417121937
NM_004656.4(BAP1):c.48C>T (p.Thr16=) rs774965502
NM_004656.4(BAP1):c.648C>T (p.Leu216=) rs758650064
NM_004656.4(BAP1):c.659+10C>T rs778976365
NM_004656.4(BAP1):c.660-10G>A rs749460317
NM_004656.4(BAP1):c.688C>T (p.Leu230=) rs150084170
NM_004656.4(BAP1):c.795A>G (p.Val265=) rs1553645516
NM_004656.4(BAP1):c.810G>C (p.Leu270=) rs1009864663
NM_004656.4(BAP1):c.903C>T (p.Ala301=) rs1553645454
NM_004656.4(BAP1):c.931+8G>A rs573724882
NM_004656.4(BAP1):c.96C>T (p.Ile32=) rs1223222289

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