ClinVar Miner

List of variants in gene DNAAF11 studied for Primary ciliary dyskinesia 19

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Gene type:
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Total variants: 223
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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 0.15090
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02261
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.*239T>C rs116329113 0.00799
NM_012472.6(DNAAF11):c.914+13A>G rs113135637 0.00652
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr) rs78620801 0.00149
NM_012472.6(DNAAF11):c.*179A>G rs549691657 0.00133
NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=) rs139369647 0.00115
NM_012472.6(DNAAF11):c.1226+6A>G rs377220897 0.00110
NM_012472.6(DNAAF11):c.*193A>G rs139222648 0.00100
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His) rs76147813 0.00098
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.836+18A>G rs201428444 0.00085
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00074
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00052
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00047
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val) rs146067670 0.00046
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.*5T>G rs144068846 0.00034
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) rs149894438 0.00030
NM_012472.6(DNAAF11):c.*63C>A rs559073925 0.00024
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) rs143717300 0.00023
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.472G>T (p.Ala158Ser) rs146136398 0.00019
NM_012472.6(DNAAF11):c.1141-18G>A rs191376365 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.369C>T (p.Asn123=) rs373347833 0.00012
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00010
NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr) rs376498462 0.00010
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.186T>C (p.Val62=) rs112144537 0.00008
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=) rs139786749 0.00005
NM_012472.6(DNAAF11):c.674A>T (p.Asp225Val) rs751328405 0.00005
NM_012472.6(DNAAF11):c.250T>C (p.Leu84=) rs750250466 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) rs199705053 0.00004
NM_012472.6(DNAAF11):c.831A>G (p.Lys277=) rs757347921 0.00004
NM_012472.6(DNAAF11):c.996C>A (p.Ile332=) rs750858514 0.00004
NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter) rs150975285 0.00003
NM_012472.6(DNAAF11):c.1081G>A (p.Asp361Asn) rs1365254688 0.00003
NM_012472.6(DNAAF11):c.1140+10G>A rs371118771 0.00003
NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn) rs760744496 0.00003
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) rs915071476 0.00003
NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter) rs369985188 0.00003
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=) rs768257025 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.429+13T>A rs1434700055 0.00003
NM_012472.6(DNAAF11):c.562C>T (p.Gln188Ter) rs397515461 0.00003
NM_012472.6(DNAAF11):c.610G>A (p.Ala204Thr) rs772453135 0.00003
NM_012472.6(DNAAF11):c.654-20del rs777342714 0.00003
NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=) rs142575670 0.00002
NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg) rs759547176 0.00002
NM_012472.6(DNAAF11):c.1140+11T>A rs761700376 0.00002
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) rs886062700 0.00002
NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln) rs758116681 0.00002
NM_012472.6(DNAAF11):c.402C>T (p.Phe134=) rs978054244 0.00002
NM_012472.6(DNAAF11):c.47A>T (p.Asn16Ile) rs778465163 0.00002
NM_012472.6(DNAAF11):c.48C>T (p.Asn16=) rs770150116 0.00002
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp) rs780609401 0.00002
NM_012472.6(DNAAF11):c.81G>A (p.Ser27=) rs758504235 0.00002
NM_012472.6(DNAAF11):c.915-19C>T rs200544802 0.00002
NM_012472.6(DNAAF11):c.939C>T (p.Asn313=) rs771394029 0.00002
NM_012472.6(DNAAF11):c.10+6C>A rs774104305 0.00001
NM_012472.6(DNAAF11):c.1020C>T (p.Tyr340=) rs745624673 0.00001
NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile) rs1451885715 0.00001
NM_012472.6(DNAAF11):c.1044+12C>A rs564023548 0.00001
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=) rs1381675903 0.00001
NM_012472.6(DNAAF11):c.108A>G (p.Leu36=) rs753644261 0.00001
NM_012472.6(DNAAF11):c.11-10T>C rs781574679 0.00001
NM_012472.6(DNAAF11):c.1140+6T>A rs773041232 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.1226+10T>A rs1815570070 0.00001
NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg) rs182327254 0.00001
NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=) rs763386182 0.00001
NM_012472.6(DNAAF11):c.1284G>A (p.Val428=) rs1370395409 0.00001
NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=) rs1814290668 0.00001
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val) rs775099366 0.00001
NM_012472.6(DNAAF11):c.178+18G>A rs748179205 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.451G>T (p.Glu151Ter) rs1218098769 0.00001
NM_012472.6(DNAAF11):c.481G>T (p.Asp161Tyr) rs1056908657 0.00001
NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys) rs1563705280 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.538C>T (p.Arg180Ter) rs979934112 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.598_599del (p.Lys200fs) rs397515424 0.00001
NM_012472.6(DNAAF11):c.633C>T (p.Tyr211=) rs750603177 0.00001
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) rs774194116 0.00001
NM_012472.6(DNAAF11):c.668G>A (p.Ser223Asn) rs1404624888 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.837-10C>G rs771690684 0.00001
NM_012472.6(DNAAF11):c.837-9A>G rs749654432 0.00001
NM_012472.6(DNAAF11):c.873G>C (p.Leu291Phe) rs757257028 0.00001
NM_012472.6(DNAAF11):c.901G>A (p.Val301Met) rs1180254935 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
NC_000008.10:g.(?_133584534)_(133584748_?)del
NC_000008.10:g.(?_133584554)_(133584748_?)dup
NC_000008.10:g.(?_133595921)_(133596046_?)dup
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+11dup
NM_012472.6(DNAAF11):c.10+12T>A rs1563729272
NM_012472.6(DNAAF11):c.10+13C>T
NM_012472.6(DNAAF11):c.10+1G>A rs767624733
NM_012472.6(DNAAF11):c.10+7C>T rs2538396733
NM_012472.6(DNAAF11):c.10+9C>G
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=) rs368167391
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.1023G>A (p.Val341=)
NM_012472.6(DNAAF11):c.1044+1G>A
NM_012472.6(DNAAF11):c.1045-14C>G
NM_012472.6(DNAAF11):c.1050del (p.Gln351fs) rs763900107
NM_012472.6(DNAAF11):c.1080C>T (p.Pro360=)
NM_012472.6(DNAAF11):c.1084AGT[1] (p.Ser364del) rs1554679225
NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln) rs916523057
NM_012472.6(DNAAF11):c.1140+3A>G rs1818509261
NM_012472.6(DNAAF11):c.1141-7A>G rs1815589899
NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu) rs1815588792
NM_012472.6(DNAAF11):c.1142del (p.Val381fs) rs2131015097
NM_012472.6(DNAAF11):c.1155C>T (p.Ile385=)
NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=) rs2537538397
NM_012472.6(DNAAF11):c.1197G>C (p.Ser399=)
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg) rs1815572688
NM_012472.6(DNAAF11):c.1226+17C>T rs757028380
NM_012472.6(DNAAF11):c.1226+1G>A rs1815572053
NM_012472.6(DNAAF11):c.1250_1262del (p.Glu417fs)
NM_012472.6(DNAAF11):c.1258C>A (p.Pro420Thr) rs1554667007
NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu) rs2537459371
NM_012472.6(DNAAF11):c.1291A>G (p.Ile431Val)
NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe) rs770349365
NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=) rs2537458627
NM_012472.6(DNAAF11):c.1386G>A (p.Val462=) rs749984059
NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=) rs146460901
NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=) rs146460901
NM_012472.6(DNAAF11):c.169_173delinsTCCCAAT (p.Gly57fs)
NM_012472.6(DNAAF11):c.178+15T>C
NM_012472.6(DNAAF11):c.179-16T>G rs1345691973
NM_012472.6(DNAAF11):c.179-1G>A
NM_012472.6(DNAAF11):c.183T>G (p.Asn61Lys)
NM_012472.6(DNAAF11):c.193C>T (p.Leu65Phe) rs2130779094
NM_012472.6(DNAAF11):c.1A>G (p.Met1Val) rs2538396993
NM_012472.6(DNAAF11):c.224T>G (p.Leu75Ter)
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) rs749435096
NM_012472.6(DNAAF11):c.252G>A (p.Leu84=)
NM_012472.6(DNAAF11):c.256+7C>T
NM_012472.6(DNAAF11):c.257-9del
NM_012472.6(DNAAF11):c.272C>A (p.Ala91Glu) rs770211764
NM_012472.6(DNAAF11):c.28A>G (p.Arg10Gly) rs148650529
NM_012472.6(DNAAF11):c.302_309del (p.Gly101fs)
NM_012472.6(DNAAF11):c.306G>A (p.Glu102=) rs2538048705
NM_012472.6(DNAAF11):c.326T>G (p.Leu109Trp) rs2538048423
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) rs1821475039
NM_012472.6(DNAAF11):c.372A>C (p.Pro124=) rs369647108
NM_012472.6(DNAAF11):c.403G>T (p.Val135Leu) rs777566528
NM_012472.6(DNAAF11):c.409G>A (p.Ala137Thr) rs2130540273
NM_012472.6(DNAAF11):c.423A>G (p.Gln141=)
NM_012472.6(DNAAF11):c.429+2T>C
NM_012472.6(DNAAF11):c.450_451delinsGT (p.Ile150_Glu151delinsMetTer) rs2130460427
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.55_56del (p.Val19fs) rs756029160
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter) rs141945265
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) rs397515425
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) rs760123202
NM_012472.6(DNAAF11):c.633C>A (p.Tyr211Ter) rs750603177
NM_012472.6(DNAAF11):c.64dup (p.Ser22fs)
NM_012472.6(DNAAF11):c.653+9A>G
NM_012472.6(DNAAF11):c.654-1G>T rs756153007
NM_012472.6(DNAAF11):c.654-20G>T rs2537929495
NM_012472.6(DNAAF11):c.654-5C>T
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=) rs200925027
NM_012472.6(DNAAF11):c.682C>T (p.Gln228Ter) rs1170838072
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) rs144399982
NM_012472.6(DNAAF11):c.707A>G (p.Asn236Ser) rs1820155543
NM_012472.6(DNAAF11):c.714G>T (p.Lys238Asn) rs2537927162
NM_012472.6(DNAAF11):c.724_725del (p.Asn242fs) rs2130325496
NM_012472.6(DNAAF11):c.726C>T (p.Asn242=) rs2537926883
NM_012472.6(DNAAF11):c.739T>C (p.Leu247=)
NM_012472.6(DNAAF11):c.754A>C (p.Lys252Gln)
NM_012472.6(DNAAF11):c.756G>A (p.Lys252=) rs1375393238
NM_012472.6(DNAAF11):c.786G>A (p.Leu262=)
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_012472.6(DNAAF11):c.802A>T (p.Met268Leu) rs1483225382
NM_012472.6(DNAAF11):c.80C>T (p.Ser27Leu) rs777870754
NM_012472.6(DNAAF11):c.836+20G>A rs752491424
NM_012472.6(DNAAF11):c.837-11C>A rs2537898804
NM_012472.6(DNAAF11):c.845del (p.Lys282fs) rs1391729028
NM_012472.6(DNAAF11):c.845dup (p.Lys283fs) rs1391729028
NM_012472.6(DNAAF11):c.864C>T (p.Pro288=) rs2130273264
NM_012472.6(DNAAF11):c.873G>A (p.Leu291=) rs757257028
NM_012472.6(DNAAF11):c.914+18G>C rs2130271136
NM_012472.6(DNAAF11):c.914+19A>G
NM_012472.6(DNAAF11):c.915-11G>A rs913389954
NM_012472.6(DNAAF11):c.935A>T (p.Asp312Val) rs759877163
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs) rs1586586381
NM_012472.6(DNAAF11):c.969C>G (p.Val323=) rs1355704510
NM_012472.6(DNAAF11):c.970T>C (p.Tyr324His)
NM_012472.6(DNAAF11):c.974+18G>A rs185791758
NM_012472.6(DNAAF11):c.974+1G>T rs2537813639
NM_012472.6(DNAAF11):c.974+9A>G rs769060474
NM_012472.6(DNAAF11):c.996C>T (p.Ile332=) rs750858514

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