List of variants in gene BBS9 reported as pathogenic for perceptual disorders

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)	rs998200637	0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)	rs767005321	0.00001
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	rs606231137
NM_198428.3(BBS9):c.263+1G>T	rs137962929
NM_198428.3(BBS9):c.425C>A (p.Ser142Ter)
NM_198428.3:c.(1552+1_1553-1)_(1693+1_1694-1)del

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