ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 13

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51384
NM_178452.6(DNAAF1):c.*36C>T rs8692 0.49327
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37678
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30535
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28680
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27950
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16313
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.04969
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_178452.6(DNAAF1):c.*18T>C rs2288024 0.03108
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03033
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02685
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_178452.6(DNAAF1):c.-128G>C rs140245131 0.01445
NM_178452.6(DNAAF1):c.352+17G>C rs142704524 0.01333
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01064
NM_178452.6(DNAAF1):c.*67T>C rs4150186 0.00632
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00606
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00601
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=) rs35214636 0.00469
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_178452.6(DNAAF1):c.-66T>C rs190497604 0.00342
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00317
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00248
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00174
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00120
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) rs4150188 0.00112
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677 0.00105
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg) rs117114021 0.00054
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr) rs35496754 0.00049
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=) rs141074491 0.00044
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=) rs373515859 0.00035
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val) rs149958269 0.00032
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) rs139743343 0.00026
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln) rs538389058 0.00022
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn) rs145075337 0.00020
NM_178452.6(DNAAF1):c.1528+11C>T rs375586650 0.00016
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=) rs769877978 0.00012
NM_178452.6(DNAAF1):c.2065+5G>A rs774606576 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=) rs370819090 0.00010
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=) rs145469545 0.00010
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu) rs767204860 0.00009
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=) rs764511452 0.00009
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) rs201034372 0.00007
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00007
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) rs1169328891 0.00007
NM_178452.6(DNAAF1):c.-100G>A rs886052364 0.00006
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) rs142601761 0.00006
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=) rs368651695 0.00005
NM_178452.6(DNAAF1):c.1528+12G>A rs765784723 0.00005
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile) rs759644657 0.00004
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu) rs764943936 0.00004
NM_178452.6(DNAAF1):c.*16T>C rs886052373 0.00003
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr) rs747363759 0.00003
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr) rs769986363 0.00003
NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr) rs1410955894 0.00002
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00002
NM_178452.6(DNAAF1):c.1196C>T (p.Pro399Leu) rs745897840 0.00002
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) rs1165621423 0.00002
NM_178452.6(DNAAF1):c.1528+4A>G rs544901275 0.00002
NM_178452.6(DNAAF1):c.1645-2A>C rs764066045 0.00002
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) rs372901697 0.00002
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_178452.6(DNAAF1):c.1098C>T (p.Pro366=) rs1014231886 0.00001
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala) rs2088240509 0.00001
NM_178452.6(DNAAF1):c.1375G>A (p.Asp459Asn) rs2088254503 0.00001
NM_178452.6(DNAAF1):c.1400C>A (p.Thr467Asn) rs753030611 0.00001
NM_178452.6(DNAAF1):c.1747A>G (p.Ser583Gly) rs750500335 0.00001
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val) rs374900685 0.00001
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=) rs772036783 0.00001
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn) rs570928611 0.00001
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln) rs1305691679 0.00001
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter) rs267607226 0.00001
NM_178452.6(DNAAF1):c.842G>T (p.Arg281Ile) rs754950357 0.00001
NM_178452.6(DNAAF1):c.1031-11T>G rs200286840
NM_178452.6(DNAAF1):c.124+1536_353-2102del
NM_178452.6(DNAAF1):c.125-5T>C rs2507334768
NM_178452.6(DNAAF1):c.1282G>T (p.Glu428Ter)
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) rs397515339
NM_178452.6(DNAAF1):c.1496del (p.Pro499fs) rs2151267265
NM_178452.6(DNAAF1):c.1528+13G>A rs886052369
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys) rs886052370
NM_178452.6(DNAAF1):c.1728C>T (p.Ile576=) rs886052371
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu) rs886052366
NM_178452.6(DNAAF1):c.1930A>T (p.Arg644Ter) rs1359241037
NM_178452.6(DNAAF1):c.2049_2056del (p.Ala684fs) rs1567570991
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.2143dup (p.Asp715fs) rs778862178
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr) rs200440212
NM_178452.6(DNAAF1):c.304C>T (p.Leu102Phe)
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met) rs372390124
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) rs34897947
NM_178452.6(DNAAF1):c.423A>G (p.Ile141Met) rs2087327643
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs) rs786205052
NM_178452.6(DNAAF1):c.514C>G (p.Leu172Val) rs886052367
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu) rs923568355
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=) rs200109125
NM_178452.6(DNAAF1):c.733C>T (p.Pro245Ser) rs747310581
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys) rs373103805
NM_178452.6(DNAAF1):c.995A>C (p.Glu332Ala) rs886052368
NM_178452.6(DNAAF1):c.997G>A (p.Glu333Lys) rs1259556318

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