ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 19 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) rs587777546 0.00001
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)

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