ClinVar Miner

List of variants in gene ARL14EP-DT, FSHB studied for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382289.1(FSHB):c.228C>T (p.Tyr76=) rs6169 0.53743
NM_001382289.1(FSHB):c.*476A>G rs506197 0.48898
NM_001382289.1(FSHB):c.*520C>G rs506306 0.48895
NM_001382289.1(FSHB):c.*635A>G rs676349 0.48660
NM_001382289.1(FSHB):c.*948T>G rs78946483 0.02933
NM_001382289.1(FSHB):c.*1009G>A rs75464895 0.00544
NM_001382289.1(FSHB):c.312G>A (p.Lys104=) rs34365964 0.00371
NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile) rs6170 0.00231
NM_001382289.1(FSHB):c.*303C>A rs555094841 0.00162
NM_001382289.1(FSHB):c.*898T>C rs143137782 0.00120
NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg) rs148454792 0.00071
NM_001382289.1(FSHB):c.*1337G>A rs540432482 0.00047
NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln) rs151303573 0.00021
NM_001382289.1(FSHB):c.*212T>C rs879553055 0.00010
NM_001382289.1(FSHB):c.*841C>A rs969083152 0.00004
NM_001382289.1(FSHB):c.*551G>A rs886048179 0.00001
NM_001382289.1(FSHB):c.*663G>C rs779622190 0.00001
NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu) rs763300762 0.00001
NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter) rs374623109 0.00001
NM_000510.2(FSHB):c.-280G>T rs10835638
NM_000510.3(FSHB):c.*1430T>C rs1852066518
NM_001382289.1(FSHB):c.*610C>T rs1852054247
NM_001382289.1(FSHB):c.*872C>T rs552570330
NM_001382289.1(FSHB):c.-38+2T>C rs886048178
NM_001382289.1(FSHB):c.-66C>G rs755811230
NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly) rs5030776
NM_001382289.1(FSHB):c.236_237del (p.Val79fs) rs5030646
NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu) rs1044572003
NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter) rs121909666
NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg) rs5030777
NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr)

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.