ClinVar Miner

List of variants reported as likely pathogenic for Persistent Mullerian duct syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp) rs749715622 0.00001
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter) rs755196112 0.00001
NM_000479.5(AMH):c.1015dup (p.Leu339fs)
NM_000479.5(AMH):c.1047_1056dup (p.Thr353fs)
NM_000479.5(AMH):c.118C>T (p.Arg40Ter)
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)
NM_000479.5(AMH):c.301G>A (p.Gly101Arg)
NM_020547.3(AMHR2):c.1175dup (p.Leu392fs)
NM_020547.3(AMHR2):c.160C>T (p.Arg54Cys)
NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter)
NM_020547.3(AMHR2):c.402_422delinsAGGTAGCCACCCA (p.Gln135fs)
NM_020547.3(AMHR2):c.43del (p.Val15fs) rs2136938115
NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)

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.