ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Hadassah Hebrew University Medical Center

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs) rs1592671672
NM_144596.3(TTC8):c.265+1_265+2del rs1595939517
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361

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