ClinVar Miner

List of variants reported as likely 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: 1
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NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398

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