ClinVar Miner

List of variants reported as pathogenic for Meckel-Gruber syndrome by Genetic Services Laboratory,University of Chicago

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Total variants: 3
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NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832

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