ClinVar Miner

List of variants studied for Kallmann syndrome by Genetics Department, Polish Mother's Memorial Hospital Research Institute

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys) rs149396342 0.00003
NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys) rs921084722 0.00002
NM_001035235.4(SRA1):c.341G>A (p.Arg114His) rs1306465994 0.00001
NM_001059.3(TACR3):c.737+1G>A rs760022956 0.00001
NM_000216.4(ANOS1):c.313del (p.Cys105fs) rs1601988004
NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter) rs1601965037
NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe) rs1588492186
NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) rs1586462917
NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro) rs1586113652
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del) rs1586375906
NM_144773.4(PROKR2):c.889G>T (p.Val297Phe) rs139399061

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.