ClinVar Miner

List of variants studied for amelogenesis imperfecta type 1A by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_000228.3(LAMB3):c.184-70A>G rs2076357 0.57810
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) rs1049607 0.44327
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_000228.3(LAMB3):c.1976+169T>C rs4844860 0.29396
NM_000228.3(LAMB3):c.298+50T>A rs2076355 0.28812
NM_000228.3(LAMB3):c.2556+60C>T rs3737913 0.27290
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.1486-18G>A rs2076350 0.12625
NM_000228.3(LAMB3):c.1289-52G>A rs2072938 0.12083
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) rs2229465 0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) rs2076222 0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) rs2072937 0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) rs2229466 0.02614
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.822+33G>C rs2072940

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.