ClinVar Miner

List of variants in gene TTLL5 reported as benign for Cone-rod dystrophy 19

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090

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