ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 19

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001177701.3(IFT27):c.174+21G>A rs1048012 0.75738
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_001177701.3(IFT27):c.136G>T (p.Val46Leu) rs376189927 0.00001
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.116C>G (p.Thr39Arg) rs1938280351
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp) rs765920708
NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)

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