ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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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.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
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.1695+10G>A rs200276861 0.00029

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