ClinVar Miner

List of variants studied for cobblestone lissencephaly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) rs199646967
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_013382.5(POMT2):c.334-3C>A rs1566658848
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842

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