ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by Athena Diagnostics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
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.1349G>A (p.Arg450Gln) rs77298332 0.02147

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