ClinVar Miner

List of variants in gene BAP1 reported as benign by Ambry Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_004656.4(BAP1):c.376-4G>A rs369277958 0.00016
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705 0.00016
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly) rs747109385 0.00009
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.360G>A (p.Lys120=) rs749405309 0.00001
NM_004656.4(BAP1):c.572T>C (p.Ile191Thr) rs752793866 0.00001
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu) rs142059527
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val) rs144993791

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