ClinVar Miner

List of variants in gene BAP1 reported as pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.438-2A>G rs587776879 0.00001
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter) rs1553645126
NM_004656.4(BAP1):c.1209dup (p.Asp404Ter) rs2153226844
NM_004656.4(BAP1):c.1254T>A (p.Tyr418Ter) rs1064795786
NM_004656.4(BAP1):c.130dup (p.Tyr44fs)
NM_004656.4(BAP1):c.1311del (p.Ser438fs) rs2153226756
NM_004656.4(BAP1):c.132del (p.Val43_Tyr44insTer) rs2153228349
NM_004656.4(BAP1):c.1459_1462del (p.Thr487fs) rs1705049633
NM_004656.4(BAP1):c.1514C>A (p.Ser505Ter) rs1322319973
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.1936_1937insTT (p.Tyr646fs)
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) rs387906848
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.581-2A>G rs1430317959
NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)
NM_004656.4(BAP1):c.79dup (p.Val27fs) rs397509413
NM_004656.4(BAP1):c.830_831del (p.Gln277fs) rs1327490224
NM_004656.4(BAP1):c.855dup (p.Lys286fs) rs1553645486
NM_004656.4(BAP1):c.993del (p.Lys331fs) rs1705111763

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