ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001

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