ClinVar Miner

List of variants in gene DNAAF5 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_017802.4(DNAAF5):c.1784-1G>T rs765025514 0.00004
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter) rs1216182303 0.00002
NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter) rs950490534 0.00001
NC_000007.13:g.(?_794206)_(825290_?)del
NC_000007.13:g.(?_825134)_(825290_?)del
NM_017802.4(DNAAF5):c.1219dup (p.Gln407fs)
NM_017802.4(DNAAF5):c.1777_1778del (p.Gln593fs) rs1782745000
NM_017802.4(DNAAF5):c.2013_2028delinsATGGCC (p.Ala672fs) rs1583517442
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs) rs1554255966
NM_017802.4(DNAAF5):c.2320_2321del (p.Val774fs)
NM_017802.4(DNAAF5):c.2353_2354del (p.Ser785fs) rs878855036
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017802.4(DNAAF5):c.707_717del (p.His236fs)
NM_017802.4(DNAAF5):c.745del (p.His249fs) rs1307353210
NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)
NM_017802.4(DNAAF5):c.763_766del (p.Phe255fs)
NM_017802.4(DNAAF5):c.810_822del (p.Gly271fs)
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter) rs1489856215
NM_017802.4(DNAAF5):c.943C>T (p.Gln315Ter) rs756233808
NM_017802.4(DNAAF5):c.948G>A (p.Trp316Ter) rs201507046
NM_017802.4(DNAAF5):c.960_961del (p.Asn320fs)
NM_017802.4(DNAAF5):c.987del (p.Phe330fs)

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.