List of variants reported as pathogenic for spermatogenic failure by Institute of Reproductive and Stem Cell Engineering, Central South University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter)	rs752801920
NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs)	rs2150630821
NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs)	rs1484755918
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly)	rs1254456989
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	rs1269179049

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.