ClinVar Miner

List of variants in gene IFT172 reported as pathogenic for Bardet-Biedl syndrome 20

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.4428+3A>G rs2148476381

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