ClinVar Miner

List of variants reported as benign for Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) rs7536561 0.40777
NM_033343.4(LHX4):c.778+14G>T rs3806302 0.09243
NM_033343.4(LHX4):c.452-5T>C rs2764449 0.05703
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_033343.4(LHX4):c.-120C>T rs355625 0.02332
NM_033343.4(LHX4):c.*97T>G rs145063714 0.01162
NM_033343.4(LHX4):c.*286G>C rs80203153 0.00865
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_033343.4(LHX4):c.*130C>T rs59623342 0.00680
NM_033343.4(LHX4):c.*445G>T rs57069480 0.00607
NM_033343.4(LHX4):c.63T>C (p.Gly21=) rs75857235 0.00465
NM_033343.4(LHX4):c.*119T>C rs180725260 0.00142
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) rs200187045 0.00001
NM_033343.4(LHX4):c.*17C>A rs116482990

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.