ClinVar Miner

List of variants reported as pathogenic for cobblestone lissencephaly by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354

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