ClinVar Miner

List of variants reported as pathogenic for Meckel-Gruber syndrome by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

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Total variants: 3
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NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805

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