ClinVar Miner

List of variants reported as pathogenic for Meckel-Gruber syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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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