List of variants in gene DSP reported as uncertain significance for Primary familial hypertrophic cardiomyopathy

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	rs116888866	0.00026
NM_004415.4(DSP):c.598-4G>A	rs747448946	0.00004
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)	rs730880088	0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)	rs869025397	0.00002
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)	rs730880081	0.00001
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)	rs749682166	0.00001
NM_004415.4(DSP):c.1315G>A (p.Val439Ile)	rs587782941
NM_004415.4(DSP):c.1348C>G (p.Pro450Ala)	rs869025390
NM_004415.4(DSP):c.3199G>T (p.Ala1067Ser)	rs730880083
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)	rs202084959
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)	rs730880091
NM_004415.4(DSP):c.5379+8C>G	rs771984464
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr)	rs730880087
NM_004415.4(DSP):c.7213C>A (p.Leu2405Ile)	rs774401264

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.