List of variants in gene BBS9 reported as likely pathogenic by Invitae

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.442+1G>C	rs587777811	0.00001
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1433-2A>G
NM_198428.3(BBS9):c.1552+2T>A	rs1563049863
NM_198428.3(BBS9):c.2115+1G>A	rs886039801
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.703-2A>G

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