ClinVar Miner

List of variants in gene combination ACBD6, LHX4 reported as uncertain significance 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: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.*289G>A rs74970014 0.00180
NM_033343.4(LHX4):c.*28C>A rs75471724 0.00012
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) rs372952844 0.00009
NM_033343.4(LHX4):c.*154A>G rs747210761 0.00004
NM_033343.4(LHX4):c.*91C>T rs555728017 0.00003
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) rs780869144 0.00003
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) rs201612374 0.00001
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) rs766381404 0.00001
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) rs747140246 0.00001
NM_033343.4(LHX4):c.*17C>T rs116482990
NM_033343.4(LHX4):c.*221G>T rs1648926689
NM_033343.4(LHX4):c.*280T>C rs1648929835
NM_033343.4(LHX4):c.*460G>C rs988330056
NM_033343.4(LHX4):c.*8T>C rs1320121590
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842
NM_033343.4(LHX4):c.486C>A (p.Thr162=) rs183432227
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) rs2149266749
NM_033343.4(LHX4):c.743A>T (p.Asp248Val)
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)

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.