ClinVar Miner

List of variants in gene LAMB1 reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) rs879255267
NM_002291.3(LAMB1):c.2109+1G>T rs387907344
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) rs879255266
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) rs387907343

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