ClinVar Miner

List of variants in gene DNAAF11 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) rs2293979 0.51887
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=) rs35956157 0.01575
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_012472.6(DNAAF11):c.914+13A>G rs113135637 0.00652
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr) rs78620801 0.00116
NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=) rs139369647 0.00115
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His) rs76147813 0.00061
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_012472.6(DNAAF11):c.*5T>G rs144068846 0.00035
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00033
NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=)
NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=) rs146460901
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.974+18G>A rs185791758

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