List of variants in gene BBS7 studied 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
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)	rs111442398	0.00154
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)	rs150743868	0.00025
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
NM_176824.3(BBS7):c.790G>A (p.Gly264Arg)	rs932897330	0.00001
NM_176824.3(BBS7):c.1002del (p.Asn335fs)	rs762782183
NM_176824.3(BBS7):c.1043A>G (p.Glu348Gly)
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)	rs878853352
NM_176824.3(BBS7):c.342-2A>G	rs1560664459
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	rs760165634
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)	rs869025207

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