ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_024649.5(BBS1):c.1180+116T>C rs3819247 0.24920
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_024649.5(BBS1):c.1608+95C>T rs2305532 0.21152
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_024649.5(BBS1):c.951+11dup

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