ClinVar Miner

List of variants reported as likely benign for CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00377
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00066
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00014
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00010
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00008
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355

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.