ClinVar Miner

List of variants reported as pathogenic for male infertility with teratozoospermia due to single gene mutation by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) rs137853118 0.00032
NM_173812.5(DPY19L2):c.869G>A (p.Arg290His) rs147579680 0.00023
NM_173812.5(DPY19L2):c.1183del (p.Ser395fs) rs751879424 0.00003
NM_173812.5(DPY19L2):c.1218+1G>A rs868256749 0.00003
NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter) rs587777205 0.00003
NM_173812.5(DPY19L2):c.893G>A (p.Arg298His) rs752764341 0.00002
NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys) rs587777206 0.00001
NC_000012.12:g.(?_63558913)_(63669201_?)del
NG_031909.1:g.(12232_26209)_(29173_47048)del
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001015878.2(AURKC):c.436-2A>G rs397515484
NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr) rs121908654
NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del) rs538539239

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.