ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
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.534C>T (p.Gly178=) rs200285587 0.00016
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705 0.00016
NM_004656.4(BAP1):c.37+31G>C rs200628603 0.00006
NM_004656.4(BAP1):c.765A>G (p.Val255=) rs1222530223 0.00006
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser) rs142887785 0.00005
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.-6G>A rs758722091 0.00001
NM_004656.4(BAP1):c.1131G>A (p.Leu377=) rs572089064 0.00001
NM_004656.4(BAP1):c.1323G>A (p.Gln441=) rs749372454 0.00001
NM_004656.4(BAP1):c.787A>G (p.Ile263Val) rs370841382 0.00001
NM_004656.4(BAP1):c.130dup (p.Tyr44fs)
NM_004656.4(BAP1):c.1311del (p.Ser438fs) rs2153226756
NM_004656.4(BAP1):c.1401T>G (p.Thr467=) rs1578220972
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.209C>A (p.Ser70Tyr) rs1705236699
NM_004656.4(BAP1):c.300C>T (p.Leu100=)
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.932-2_933del rs2153227087
NM_004656.4(BAP1):c.993del (p.Lys331fs) rs1705111763

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