ClinVar Miner

List of variants in gene DNAAF5 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017802.4(DNAAF5):c.905+107T>C rs62432212 0.98810
NM_017802.4(DNAAF5):c.1257+13A>G rs34761279 0.83091
NM_017802.4(DNAAF5):c.*139A>G rs62432897 0.83080
NM_017802.4(DNAAF5):c.1932-67T>C rs4719279 0.77396
NM_017802.4(DNAAF5):c.2432-40T>C rs67721251 0.77187
NM_017802.4(DNAAF5):c.906-4T>G rs6943337 0.76245
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys) rs3922641 0.64560
NM_017802.4(DNAAF5):c.2083-31G>A rs34943122 0.64150
NM_017802.4(DNAAF5):c.1932-35G>A rs62432869 0.61848
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala) rs4720951 0.43572
NM_017802.4(DNAAF5):c.1784-1298C>G rs6946758 0.43082
NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=) rs73036225 0.14212
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg) rs113374052 0.01381
NM_017802.4(DNAAF5):c.1056C>T (p.Leu352=) rs77384933 0.00971
NM_017802.4(DNAAF5):c.2240-12C>T rs114742749 0.00586
NM_017802.4(DNAAF5):c.1678C>T (p.Arg560Cys) rs73258248 0.00535
NM_017802.4(DNAAF5):c.1319T>G (p.Ile440Ser) rs148065657 0.00513
NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=) rs114907681 0.00336
NM_017802.4(DNAAF5):c.1471-13C>T rs140078958 0.00314
NM_017802.4(DNAAF5):c.1689T>C (p.Ile563=) rs151227818 0.00296
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700 0.00255
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys) rs118139460 0.00208
NM_017802.4(DNAAF5):c.1245C>T (p.Ala415=) rs146922072 0.00180
NM_017802.4(DNAAF5):c.711T>C (p.Phe237=) rs543710960 0.00168
NM_017802.4(DNAAF5):c.2361C>T (p.Val787=) rs140641290 0.00118
NM_017802.4(DNAAF5):c.888C>T (p.Asp296=) rs137860295 0.00101
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=) rs180946359 0.00070
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu) rs149980915 0.00061
NM_017802.4(DNAAF5):c.1257+19G>T rs371368276 0.00056
NM_017802.4(DNAAF5):c.1539C>T (p.Gly513=) rs577043545 0.00042
NM_017802.4(DNAAF5):c.905+15G>A rs200552045 0.00038
NM_017802.4(DNAAF5):c.1394G>A (p.Arg465Gln) rs192289643 0.00031
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr) rs141828030 0.00013
NM_017802.4(DNAAF5):c.1371C>T (p.Ala457=) rs568531246 0.00006
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=) rs544376163 0.00004
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_017802.4(DNAAF5):c.1446C>G (p.Ala482=) rs571248637 0.00002
NM_017802.4(DNAAF5):c.717C>T (p.Asn239=) rs569560572 0.00001
NM_017802.4(DNAAF5):c.1024+11G>T rs201554395
NM_017802.4(DNAAF5):c.1615-101G>A rs4495324
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
NM_017802.4(DNAAF5):c.2082+32C>G rs6973746
NM_017802.4(DNAAF5):c.2082+8del rs878855035
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu) rs115058579
NM_017802.4(DNAAF5):c.906-125T>G rs6943174

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.