List of variants in gene BAP1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)	rs1553645126
NM_004656.4(BAP1):c.1254T>A (p.Tyr418Ter)	rs1064795786
NM_004656.4(BAP1):c.132del (p.Val43_Tyr44insTer)	rs2153228349
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.2050C>T (p.Gln684Ter)	rs387906848
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)	rs1559590613
NM_004656.4(BAP1):c.855dup (p.Lys286fs)	rs1553645486

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