ClinVar Miner

List of variants reported as benign for Meckel syndrome, type 4 by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050

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