ClinVar Miner

List of variants studied for ciliopathy by Athena Diagnostics Inc

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147

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