List of variants reported as pathogenic for Spermatogenic failure 18

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn)	rs140883175	0.00034
NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter)	rs199910432	0.00019
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs)	rs779490893	0.00004
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter)	rs759727960	0.00004
NM_015512.5(DNAH1):c.12143del (p.Ala4048fs)	rs746049858	0.00003
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_015512.5(DNAH1):c.10468_10471del (p.Arg3490fs)	rs759646845
NM_015512.5(DNAH1):c.11788-1G>A	rs1131692234
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly)	rs1131692251
NM_015512.5(DNAH1):c.4778dup (p.Asp1593fs)
NM_015512.5(DNAH1):c.6131del (p.Phe2044fs)	rs1703258379
NM_015512.5(DNAH1):c.8626-1G>A	rs1131692250
NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)
NM_144668.6(CFAP251):c.3007-4915_3338-930del

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.