ClinVar Miner

List of variants reported as uncertain significance 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: 6
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NM_001195304.1(BBIP1):c.191C>G (p.Ala64Gly) rs760064445
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.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

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