ClinVar Miner

List of variants reported as pathogenic for congenital vitreoretinal dysplasia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354

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