List of variants in gene BAP1 reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_004656.4(BAP1):c.122+5G>C	rs1578230320
NM_004656.4(BAP1):c.146T>C (p.Leu49Pro)	rs2153228340
NM_004656.4(BAP1):c.34C>G (p.Pro12Ala)	rs2153228682
NM_004656.4(BAP1):c.586dup (p.Trp196fs)	rs1553645728
NM_004656.4(BAP1):c.592dup (p.Glu198fs)	rs1205668341
NM_004656.4(BAP1):c.659+1del	rs1064795667
NM_004656.4(BAP1):c.91G>A (p.Glu31Lys)	rs2153228535

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