ClinVar Miner

List of variants in gene DNAAF1 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1645-2A>C rs764066045 0.00005
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00001
NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter) rs1489377964 0.00001
NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter) rs748869874 0.00001
NM_178452.6(DNAAF1):c.715del (p.Ser239fs) rs758650222 0.00001
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter) rs267607226 0.00001
NC_000016.10:g.(?_84148987)_(84150362_?)del
NC_000016.9:g.(?_84179046)_(84193421_?)del
NC_000016.9:g.(?_84188162)_(84203982_?)del
NC_000016.9:g.(?_84193260)_(84193421_?)del
NM_178452.6(DNAAF1):c.1018_1019del (p.Gln341fs) rs1567555007
NM_178452.6(DNAAF1):c.124+1536_353-2102del
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) rs397515339
NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer)
NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter)
NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs) rs1555519999
NM_178452.6(DNAAF1):c.1484del (p.Pro495fs) rs2088261600
NM_178452.6(DNAAF1):c.1496del (p.Pro499fs) rs2151267265
NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)
NM_178452.6(DNAAF1):c.1606del (p.Thr536fs)
NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter)
NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs)
NM_178452.6(DNAAF1):c.1814dup (p.Asn605fs) rs1555526915
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter) rs1060502829
NM_178452.6(DNAAF1):c.1930A>T (p.Arg644Ter) rs1359241037
NM_178452.6(DNAAF1):c.1937del (p.Leu646fs) rs1555527001
NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter) rs201034372
NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)
NM_178452.6(DNAAF1):c.30del (p.Gly11fs)
NM_178452.6(DNAAF1):c.317del (p.Pro106fs)
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs)
NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)
NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs)
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs) rs786205052
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)
NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter)
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter) rs372303284
NM_178452.6(DNAAF1):c.934_940del (p.Arg312fs) rs1233603821
NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)

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