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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)	rs768323491
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe)	rs879255267
NM_002291.3(LAMB1):c.1526del (p.Pro509fs)
NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs)	rs2150429989
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
NM_002291.3(LAMB1):c.4188+1G>C

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