ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) rs1554406824
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) rs1554402678
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842

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