ClinVar Miner

List of variants studied for Retinitis pigmentosa 80 by 3billion, Medical Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660

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