ClinVar Miner

List of variants in gene DNAAF11 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_012472.6(DNAAF11):c.*239T>C rs116329113 0.00799
NM_012472.6(DNAAF11):c.*179A>G rs549691657 0.00133
NM_012472.6(DNAAF11):c.*193A>G rs139222648 0.00094
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00081
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val) rs146067670 0.00053
NM_012472.6(DNAAF11):c.*73A>T rs115309048 0.00042
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu) rs201309011 0.00036
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.32G>A (p.Arg11Gln) rs149894438 0.00032
NM_012472.6(DNAAF11):c.*63C>A rs559073925 0.00024
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) rs143717300 0.00024
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.472G>T (p.Ala158Ser) rs146136398 0.00018
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg) rs148424037 0.00016
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val) rs376633613 0.00013
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met) rs200906172 0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) rs139008774 0.00009
NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr) rs759237359 0.00009
NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn) rs200458059 0.00009
NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr) rs199759512 0.00009
NM_012472.6(DNAAF11):c.997G>A (p.Asp333Asn) rs375060512 0.00009
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_012472.6(DNAAF11):c.1081G>A (p.Asp361Asn) rs1365254688 0.00003
NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn) rs760744496 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg) rs759547176 0.00002
NM_012472.6(DNAAF11):c.610G>A (p.Ala204Thr) rs772453135 0.00002
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp) rs780609401 0.00002
NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile) rs1451885715 0.00001
NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg) rs776429452 0.00001
NM_012472.6(DNAAF11):c.1186A>G (p.Lys396Glu) rs779471179 0.00001
NM_012472.6(DNAAF11):c.1211A>C (p.Glu404Ala) rs1035489731 0.00001
NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg) rs182327254 0.00001
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val) rs775099366 0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) rs397514596 0.00001
NM_012472.6(DNAAF11):c.389A>G (p.His130Arg) rs777011841 0.00001
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn) rs911389891 0.00001
NM_012472.6(DNAAF11):c.525T>A (p.Asp175Glu) rs1316268216 0.00001
NM_012472.6(DNAAF11):c.550A>C (p.Lys184Gln) rs748737174 0.00001
NM_012472.6(DNAAF11):c.595G>A (p.Asp199Asn) rs1003794367 0.00001
NM_012472.6(DNAAF11):c.675C>A (p.Asp225Glu) rs1056548399 0.00001
NM_012472.6(DNAAF11):c.691G>C (p.Asp231His) rs763823977 0.00001
NM_012472.6(DNAAF11):c.914+3A>G rs764900666 0.00001
NM_012472.6(DNAAF11):c.989C>T (p.Ser330Phe) rs756431151 0.00001
NM_012472.6(DNAAF11):c.*197C>G rs1814250341
NM_012472.6(DNAAF11):c.*32C>A rs1814269845
NM_012472.6(DNAAF11):c.*68T>G rs374717230
NM_012472.6(DNAAF11):c.10+6C>A
NM_012472.6(DNAAF11):c.1013C>T (p.Pro338Leu) rs140835420
NM_012472.6(DNAAF11):c.1021G>T (p.Val341Leu) rs746914801
NM_012472.6(DNAAF11):c.1044+12C>A rs564023548
NM_012472.6(DNAAF11):c.106C>G (p.Leu36Val)
NM_012472.6(DNAAF11):c.1084AGT[1] (p.Ser364del) rs1554679225
NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr)
NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)
NM_012472.6(DNAAF11):c.1140+3A>G rs1818509261
NM_012472.6(DNAAF11):c.1140+6T>A
NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu)
NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val)
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg) rs1815572688
NM_012472.6(DNAAF11):c.1258C>A (p.Pro420Thr) rs1554667007
NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)
NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu)
NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe) rs770349365
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) rs886062700
NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter) rs369985188
NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln)
NM_012472.6(DNAAF11):c.193C>T (p.Leu65Phe) rs2130779094
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) rs749435096
NM_012472.6(DNAAF11):c.272C>A (p.Ala91Glu)
NM_012472.6(DNAAF11):c.28A>G (p.Arg10Gly) rs148650529
NM_012472.6(DNAAF11):c.403G>T (p.Val135Leu)
NM_012472.6(DNAAF11):c.409G>A (p.Ala137Thr) rs2130540273
NM_012472.6(DNAAF11):c.47A>T (p.Asn16Ile)
NM_012472.6(DNAAF11):c.481G>T (p.Asp161Tyr)
NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)
NM_012472.6(DNAAF11):c.4G>C (p.Gly2Arg) rs527926539
NM_012472.6(DNAAF11):c.523G>T (p.Asp175Tyr) rs1379337413
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.668G>A (p.Ser223Asn) rs1404624888
NM_012472.6(DNAAF11):c.707A>G (p.Asn236Ser) rs1820155543
NM_012472.6(DNAAF11):c.714G>T (p.Lys238Asn)
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_012472.6(DNAAF11):c.802A>G (p.Met268Val)
NM_012472.6(DNAAF11):c.802A>T (p.Met268Leu) rs1483225382
NM_012472.6(DNAAF11):c.80C>T (p.Ser27Leu)
NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu)
NM_012472.6(DNAAF11):c.873G>C (p.Leu291Phe)
NM_012472.6(DNAAF11):c.901G>A (p.Val301Met)
NM_012472.6(DNAAF11):c.935A>T (p.Asp312Val)
NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr)

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