List of variants in gene BBS9 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)	rs61764068	0.00066
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)	rs138436479	0.00011
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)	rs368704638	0.00003
NM_198428.3(BBS9):c.433G>A (p.Gly145Ser)	rs144340890	0.00002
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.115A>G (p.Lys39Glu)	rs1584179629
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	rs606231137
NM_198428.3(BBS9):c.2354C>T (p.Ser785Leu)
NM_198428.3(BBS9):c.263+1G>T	rs137962929
NM_198428.3(BBS9):c.425C>A (p.Ser142Ter)
NM_198428.3(BBS9):c.526C>T (p.Pro176Ser)
NM_198428.3(BBS9):c.744A>G (p.Ile248Met)
NM_198428.3(BBS9):c.809G>T (p.Cys270Phe)	rs763742314
NM_198428.3:c.(1552+1_1553-1)_(1693+1_1694-1)del

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