ClinVar Miner

List of variants reported as likely pathogenic 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: 3
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HGVS dbSNP
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504

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