ClinVar Miner

List of variants in gene LDB1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001113407.3(LDB1):c.1199G>A (p.Ser400Asn) rs143992634 0.00011
NM_001113407.3(LDB1):c.76G>A (p.Gly26Ser) rs201649218 0.00003
NM_001113407.3(LDB1):c.919A>G (p.Met307Val) rs370177977 0.00003
NM_001113407.3(LDB1):c.1057G>A (p.Glu353Lys) rs751950349 0.00001
NM_001113407.3(LDB1):c.666G>T (p.Met222Ile) rs147037173 0.00001
NM_001113407.3(LDB1):c.868C>T (p.Arg290Cys) rs561553415 0.00001
NM_001113407.3(LDB1):c.1015G>A (p.Val339Met) rs2541013584
NM_001113407.3(LDB1):c.1125G>C (p.Glu375Asp) rs768403370
NM_001113407.3(LDB1):c.56C>T (p.Ser19Leu)
NM_001113407.3(LDB1):c.692C>G (p.Thr231Ser)
NM_001113407.3(LDB1):c.710A>G (p.Asn237Ser) rs759369989
NM_001113407.3(LDB1):c.773G>A (p.Arg258His) rs2541016714
NM_001113407.3(LDB1):c.910G>T (p.Gly304Cys) rs2541015609
NM_001113407.3(LDB1):c.92C>T (p.Pro31Leu)

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.