ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001195304.1(BBIP1):c.191C>G (p.Ala64Gly) rs760064445
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.7392_7393AG[1] (p.Glu2465fs) rs569673313
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906

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