ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001

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