ClinVar Miner

List of variants in gene BAP1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_004656.4(BAP1):c.765A>G (p.Val255=) rs1222530223 0.00006
NM_004656.4(BAP1):c.1725G>A (p.Leu575=) rs748508800 0.00004
NM_004656.4(BAP1):c.1611C>T (p.Ser537=) rs773108662 0.00002
NM_004656.4(BAP1):c.1614G>A (p.Leu538=) rs1335001283 0.00002
NM_004656.4(BAP1):c.597C>T (p.Asp199=) rs747458975 0.00002
NM_004656.4(BAP1):c.1323G>A (p.Gln441=) rs749372454 0.00001
NM_004656.4(BAP1):c.1548G>A (p.Pro516=) rs148990823 0.00001
NM_004656.4(BAP1):c.1401T>G (p.Thr467=) rs1578220972
NM_004656.4(BAP1):c.1947C>T (p.Cys649=) rs1041287605
NM_004656.4(BAP1):c.300C>T (p.Leu100=)

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