ClinVar Miner

List of variants in gene LAMB2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) rs730880125 0.00006
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs) rs1560075930 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) rs1218889239 0.00001
NM_002292.4(LAMB2):c.2344+1G>A rs140068188 0.00001
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs) rs754137583 0.00001
NM_002292.4(LAMB2):c.4285C>T (p.Arg1429Ter) rs1437058719 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607 0.00001
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs) rs769399002 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.737G>A (p.Arg246Gln) rs121912491 0.00001
NM_002292.3(LAMB2):c.1037_1038del rs1170845795
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
NM_002292.3(LAMB2):c.[4140C>A;4177C>T]
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) rs121912490
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs) rs1367444910
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.1405+1G>A
NM_002292.4(LAMB2):c.1478del (p.Cys493fs) rs1560075787
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs) rs750538204
NM_002292.4(LAMB2):c.1978_1979del (p.Lys660fs) rs1374167547
NM_002292.4(LAMB2):c.2018+2T>C
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) rs121912489
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
NM_002292.4(LAMB2):c.2884+1del
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) rs1560072794
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
NM_002292.4(LAMB2):c.3207dup (p.Asn1070fs) rs2107638673
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
NM_002292.4(LAMB2):c.3328-1G>C
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs) rs1357326383
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs) rs2045374891
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) rs2045352880
NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter) rs974891221
NM_002292.4(LAMB2):c.4611_4621del (p.Thr1538fs) rs1384293775
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter) rs777742373
NM_002292.4(LAMB2):c.4904_4905del (p.Thr1635fs) rs2107628870
NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter)
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) rs1560063136
NM_002292.4(LAMB2):c.5260+1G>T
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)
NM_002292.4(LAMB2):c.961T>C (p.Cys321Arg) rs121912492

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.