ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) rs1354476372 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_198428.3(BBS9):c.1789+1G>A rs201938124

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