ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 1 by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)

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