ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly by Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712

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