ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001276378.1(LZTFL1):c.-162G>A rs1354476372
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030

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