ClinVar Miner

List of variants in gene ANOS1 reported as pathogenic for Kallmann syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00038
NM_000216.4(ANOS1):c.255+5G>A rs773138384 0.00004
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter) rs747010865 0.00001
NC_000023.10:g.(?_8501036)_(8591731_?)del
NC_000023.10:g.(?_8501036)_(8700077_?)del
NG_007088.2:g.(37490_113516)_(149394_151790)del
NG_007088.2:g.(37490_113516)_(151921_166482)del
NG_007088.2:g.(37490_113516)_(202869_204133)del
NM_000216.4(ANOS1):c.1062+1G>C
NM_000216.4(ANOS1):c.1062+1G>T rs387906427
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) rs1555904591
NM_000216.4(ANOS1):c.1142del (p.Gly381fs)
NM_000216.4(ANOS1):c.1249C>T (p.Gln417Ter) rs2146796828
NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter) rs1555893221
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000216.4(ANOS1):c.1449+2del rs397518425
NM_000216.4(ANOS1):c.1499_1500del (p.Val500fs)
NM_000216.4(ANOS1):c.1539del (p.Glu514fs) rs1929603954
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys) rs137852515
NM_000216.4(ANOS1):c.171_181del (p.Gln57fs) rs2146919128
NM_000216.4(ANOS1):c.1756C>T (p.Gln586Ter) rs2146786666
NM_000216.4(ANOS1):c.1766G>A (p.Trp589Ter) rs2146786648
NM_000216.4(ANOS1):c.1828del (p.Gln610fs)
NM_000216.4(ANOS1):c.1842+412_*1083del
NM_000216.4(ANOS1):c.1862dup (p.Pro622fs) rs2146785809
NM_000216.4(ANOS1):c.1890_1891delinsTT (p.Arg631Ter) rs2146785767
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_000216.4(ANOS1):c.197del (p.Gln66fs)
NM_000216.4(ANOS1):c.1A>G (p.Met1Val) rs606231409
NM_000216.4(ANOS1):c.1A>T (p.Met1Leu) rs606231409
NM_000216.4(ANOS1):c.203del (p.Phe68fs) rs2146919105
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs) rs1602050730
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs) rs1057520210
NM_000216.4(ANOS1):c.544_726+2del rs2146819139
NM_000216.4(ANOS1):c.571C>T (p.Arg191Ter) rs371599938
NM_000216.4(ANOS1):c.586C>T (p.Gln196Ter) rs2146819334
NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs) rs2146919339
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter) rs137852512
NM_000216.4(ANOS1):c.739C>T (p.Arg247Ter)
NM_000216.4(ANOS1):c.745del (p.Gln249fs)
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) rs137852513
NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter) rs1601965037
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter) rs137852514
NM_000216.4(ANOS1):c.774del (p.Trp258fs) rs2146817170
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter) rs137852516
NM_000216.4(ANOS1):c.814C>T (p.Arg272Ter) rs1930491968
NM_000216.4(ANOS1):c.831del (p.Ser278fs) rs2146817110
NM_000216.4(ANOS1):c.834_835del (p.Ser278fs)
NM_000216.4(ANOS1):c.852del (p.Asp286fs)
NM_000216.4(ANOS1):c.95_105dup (p.Asp36fs) rs2146919315

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.