List of variants in gene BBS9 studied for Bardet-Biedl syndrome 1

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)	rs11773504	0.17589
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)	rs73688160	0.01649
NM_198428.3(BBS9):c.2299-20A>C	rs17727583	0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)	rs34218557	0.00872
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)	rs61764067	0.00375
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)	rs116483694	0.00287
NM_198428.3(BBS9):c.2632+9C>A	rs148654647	0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)	rs150399299	0.00219
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)	rs146752751	0.00076
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	rs606231137

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