ClinVar Miner

List of variants in gene LAMB1 studied for cobblestone lissencephaly

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) rs139487685 0.00121
NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) rs146045042 0.00022
NM_002291.3(LAMB1):c.2315-28A>G rs778943882 0.00016
NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala) rs200107269 0.00013
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) rs374245297 0.00006
NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile) rs200303288 0.00005
NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu) rs376567054 0.00004
NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg) rs369198991 0.00004
NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr) rs761321107 0.00002
NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) rs755654690 0.00002
NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) rs1292231609 0.00002
NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) rs754305761 0.00001
GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0
NM_002291.3(LAMB1):c.1000+1G>T
NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala)
NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser)
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.1637G>A (p.Gly546Asp)
NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) rs2150429989
NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln)
NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) rs2150428777
NM_002291.3(LAMB1):c.1985+5G>T
NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) rs1307088615
NM_002291.3(LAMB1):c.2109+1G>T rs387907344
NM_002291.3(LAMB1):c.234A>G (p.Ile78Met)
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) rs879255266
NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) rs387907343
NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)
NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr)
NM_002291.3(LAMB1):c.4188+1G>C
NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp)
NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) rs2116327253
NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe)
NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) rs745500256
NM_002291.3(LAMB1):c.4540G>A (p.Asp1514Asn)
NM_002291.3(LAMB1):c.455G>C (p.Arg152Pro)
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) rs199646967
NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)
NM_002291.3(LAMB1):c.785T>G (p.Val262Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.