ClinVar Miner

List of variants in gene combination ACBD6, LHX4 reported as likely benign for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.690C>T (p.Ser230=) rs111822893 0.00359
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) rs146655496 0.00159
NM_033343.4(LHX4):c.849A>C (p.Gly283=) rs373879455 0.00016
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) rs375216188 0.00010
NM_033343.4(LHX4):c.774C>T (p.Phe258=) rs565803862 0.00007
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) rs765008063 0.00003
NM_033343.4(LHX4):c.*26C>T rs138054044
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) rs201275928

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.