List of variants studied for Bardet-Biedl syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00577
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	rs3747835	0.00113
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)	rs1221499782	0.00003
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)	rs776765317	0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys)	rs1335038702	0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)	rs761403504	0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)	rs781174906	0.00001
NM_001195305.3(BBIP1):c.38-6071C>G	rs760064445
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)	rs397515335
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)	rs771266705
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	rs569673313
NM_033028.5(BBS4):c.75dup (p.Ala26fs)	rs1567398832
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)	rs1726157542

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