ClinVar Miner

Variants with conflicting interpretations studied for Ciliary dyskinesia

Coded as:
Minimum review status of the submission for Ciliary dyskinesia: Y axis collection method of the submission for Ciliary dyskinesia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
2501 390 10 275 251 0 18 510

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Ciliary dyskinesia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 10 23 11 0 0
likely pathogenic 14 0 3 0 0
uncertain significance 2 3 0 131 126
likely benign 0 0 85 0 146
benign 0 1 120 154 0

Condition to condition summary #

Total conditions: 33
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 235 0 209 159 0 2 339
Ciliary dyskinesia 3094 72 0 62 172 0 1 235
not provided 0 58 0 26 39 0 3 61
Ciliary dyskinesia, primary, 3 0 24 2 25 9 0 3 37
Kartagener syndrome 0 21 0 10 3 0 3 15
Hypertrophic cardiomyopathy 0 7 0 9 1 0 0 10
Dilated Cardiomyopathy, Recessive 0 7 0 7 1 0 0 8
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 7 0 7 1 0 0 8
Familial restrictive cardiomyopathy 0 7 0 7 1 0 0 8
Alexander Disease 0 0 0 7 0 0 0 7
Ciliary dyskinesia, primary, 9 0 5 0 5 1 0 0 6
Ciliary dyskinesia, primary, 14 0 3 2 2 1 0 0 5
Ciliary dyskinesia, primary, 15 0 10 1 3 0 0 1 5
Ciliary dyskinesia, primary, 11 0 2 3 0 0 0 1 4
Ciliary dyskinesia, primary, 19 0 3 0 2 2 0 0 4
Cardiomyopathy 0 1 0 2 1 0 0 3
Ciliary dyskinesia, primary, 13 0 3 1 1 0 0 1 3
Cardiovascular phenotype 0 0 0 2 0 0 0 2
Carbohydrate-deficient glycoprotein syndrome type II 0 0 0 1 0 0 0 1
Chondroectodermal dysplasia 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 16 0 0 0 0 1 0 0 1
Ciliary dyskinesia, primary, 17 0 1 0 1 0 0 1 1
Ciliary dyskinesia, primary, 18 0 4 1 0 0 0 0 1
Ciliary dyskinesia, primary, 2 0 9 0 0 0 0 1 1
Ciliary dyskinesia, primary, 20 0 2 0 1 0 0 0 1
Ciliary dyskinesia, primary, 22 0 2 0 1 0 0 0 1
Ciliary dyskinesia, primary, 27 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 29 0 3 0 0 1 0 0 1
Ciliary dyskinesia, primary, 7 0 12 0 0 0 0 1 1
Ciliary dyskinesia; Absent inner and outer dynein arms; Situs inversus totalis 0 0 0 1 0 0 0 1
Glycogen storage disease, type II 0 12 0 1 0 0 0 1
Inborn genetic diseases 0 4 0 1 0 0 0 1
Nemaline Myopathy, Recessive 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 510
Download table as spreadsheet
HGVS dbSNP
NM_000328.2(RPGR):c.1059+6G>A rs377731326
NM_000328.2(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.2(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000363.4(TNNI3):c.-35C>A rs3729707
NM_000363.4(TNNI3):c.150+13G>A rs73617692
NM_000363.4(TNNI3):c.204G>T (p.Arg68=) rs3729711
NM_000363.4(TNNI3):c.25-8T>A rs3729836
NM_000363.4(TNNI3):c.373-10G= rs7252610
NM_000363.4(TNNI3):c.537G>A (p.Glu179=) rs3729841
NM_001010892.2(RSPH4A):c.*8A>G rs575857124
NM_001010892.2(RSPH4A):c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA rs727504884
NM_001010892.2(RSPH4A):c.144G>A (p.Gly48=) rs112350099
NM_001010892.2(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043
NM_001010892.2(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123
NM_001010892.2(RSPH4A):c.1662+15C>T rs183372450
NM_001010892.2(RSPH4A):c.1667G>A (p.Arg556His) rs6927567
NM_001010892.2(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118
NM_001010892.2(RSPH4A):c.1731A>G (p.Lys577=) rs73765819
NM_001010892.2(RSPH4A):c.1879A>C (p.Asn627His) rs9488991
NM_001010892.2(RSPH4A):c.1917-4A>G rs201826366
NM_001010892.2(RSPH4A):c.1974A>G (p.Thr658=) rs142977481
NM_001010892.2(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715
NM_001010892.2(RSPH4A):c.2099C>T (p.Ala700Val) rs9488992
NM_001010892.2(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854
NM_001010892.2(RSPH4A):c.237A>G (p.Thr79=) rs145831200
NM_001010892.2(RSPH4A):c.325C>T (p.Gln109Ter) rs118204042
NM_001010892.2(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889
NM_001010892.2(RSPH4A):c.446C>G (p.Thr149Ser) rs13213314
NM_001010892.2(RSPH4A):c.460C>T (p.Gln154Ter) rs118204041
NM_001010892.2(RSPH4A):c.675G>T (p.Ser225=) rs79327004
NM_001010892.2(RSPH4A):c.731G>A (p.Arg244His) rs41289942
NM_001010892.2(RSPH4A):c.930C>T (p.Asn310=) rs180881714
NM_001034853.1(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_001190787.1(MCIDAS):c.739C>T (p.Arg247Trp) rs199825346
NM_001206927.1(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218
NM_001256714.1(DNAAF3):c.1036G>A (p.Ala346Thr) rs200775946
NM_001256714.1(DNAAF3):c.1079A>G (p.Glu360Gly) rs2365725
NM_001256714.1(DNAAF3):c.1117-13C>T rs146442289
NM_001256714.1(DNAAF3):c.1117-8A>G rs71367156
NM_001256714.1(DNAAF3):c.1201dupG (p.Asp401Glyfs) rs756430359
NM_001256714.1(DNAAF3):c.1205T>C (p.Leu402Pro) rs890871
NM_001256714.1(DNAAF3):c.1257G>A (p.Pro419=) rs891187
NM_001256714.1(DNAAF3):c.1364+10G>T rs200324983
NM_001256714.1(DNAAF3):c.1365-14C>T rs60176657
NM_001256714.1(DNAAF3):c.1440-8A>G rs28377509
NM_001256714.1(DNAAF3):c.147C>T (p.Thr49=) rs150362958
NM_001256714.1(DNAAF3):c.1606G>A (p.Val536Met) rs114601492
NM_001256714.1(DNAAF3):c.1791G>A (p.Pro597=) rs368857479
NM_001256714.1(DNAAF3):c.527-4delG rs201986299
NM_001256714.1(DNAAF3):c.531A>G (p.Arg177=) rs3848618
NM_001256714.1(DNAAF3):c.714A>G (p.Val238=) rs56726774
NM_001256714.1(DNAAF3):c.72C>T (p.His24=) rs376972065
NM_001256714.1(DNAAF3):c.733G>A (p.Gly245Ser) rs58824375
NM_001256714.1(DNAAF3):c.735C>T (p.Gly245=) rs559008223
NM_001256714.1(DNAAF3):c.870T>C (p.Ala290=) rs7260320
NM_001256714.1(DNAAF3):c.994-14C>T rs7260371
NM_001277115.1(DNAH11):c.*16C>T rs72658841
NM_001277115.1(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088
NM_001277115.1(DNAH11):c.10411G>A (p.Glu3471Lys) rs117729990
NM_001277115.1(DNAH11):c.10449C>T (p.Ala3483=) rs117000348
NM_001277115.1(DNAH11):c.1053G>A (p.Glu351=) rs201475447
NM_001277115.1(DNAH11):c.10573T>C (p.Leu3525=) rs886062182
NM_001277115.1(DNAH11):c.1065A>G (p.Pro355=) rs4392792
NM_001277115.1(DNAH11):c.10782G>A (p.Pro3594=) rs72657400
NM_001277115.1(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721
NM_001277115.1(DNAH11):c.11200A>C (p.Lys3734Gln) rs114257197
NM_001277115.1(DNAH11):c.11202+13G>A rs73279830
NM_001277115.1(DNAH11):c.11202+7C>A rs73279826
NM_001277115.1(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.1(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720
NM_001277115.1(DNAH11):c.11325G>A (p.Ala3775=) rs12666072
NM_001277115.1(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213
NM_001277115.1(DNAH11):c.11418C>T (p.Phe3806=) rs187814474
NM_001277115.1(DNAH11):c.11805G>A (p.Pro3935=) rs187489343
NM_001277115.1(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982
NM_001277115.1(DNAH11):c.12174C>T (p.Ala4058=) rs185794149
NM_001277115.1(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794
NM_001277115.1(DNAH11):c.12288G>A (p.Arg4096=) rs72658820
NM_001277115.1(DNAH11):c.12508-12T>C rs72658822
NM_001277115.1(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.1(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.1(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001277115.1(DNAH11):c.126G>A (p.Glu42=) rs748250611
NM_001277115.1(DNAH11):c.12899G>A (p.Arg4300His) rs377388499
NM_001277115.1(DNAH11):c.13050-15C>T rs149634292
NM_001277115.1(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972
NM_001277115.1(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.1(DNAH11):c.13128C>G (p.Leu4376=) rs56333627
NM_001277115.1(DNAH11):c.13257A>G (p.Gly4419=) rs200445638
NM_001277115.1(DNAH11):c.13278A>G (p.Ala4426=) rs773266815
NM_001277115.1(DNAH11):c.13305C>T (p.Gly4435=) rs150682314
NM_001277115.1(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381
NM_001277115.1(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980
NM_001277115.1(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840
NM_001277115.1(DNAH11):c.1426-9T>C rs72655983
NM_001277115.1(DNAH11):c.1535T>A (p.Met512Lys) rs72655984
NM_001277115.1(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988
NM_001277115.1(DNAH11):c.1749T>A (p.Val583=) rs368294823
NM_001277115.1(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130
NM_001277115.1(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683
NM_001277115.1(DNAH11):c.1995C>T (p.His665=) rs752831166
NM_001277115.1(DNAH11):c.2166A>G (p.Pro722=) rs191266255
NM_001277115.1(DNAH11):c.2275-15G>T rs60290948
NM_001277115.1(DNAH11):c.2380G>A (p.Glu794Lys) rs78653098
NM_001277115.1(DNAH11):c.2419G>C (p.Asp807His) rs369849556
NM_001277115.1(DNAH11):c.2682C>T (p.Leu894=) rs149926178
NM_001277115.1(DNAH11):c.2783A>T (p.Asp928Val) rs201386161
NM_001277115.1(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144
NM_001277115.1(DNAH11):c.2835A>G (p.Gln945=) rs17144747
NM_001277115.1(DNAH11):c.3045G>T (p.Glu1015Asp) rs72657303
NM_001277115.1(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582
NM_001277115.1(DNAH11):c.3237T>C (p.Leu1079=) rs72657304
NM_001277115.1(DNAH11):c.3256-10C>G rs17745898
NM_001277115.1(DNAH11):c.3384C>T (p.Ser1128=) rs79955190
NM_001277115.1(DNAH11):c.3425+5C>G rs776140118
NM_001277115.1(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702
NM_001277115.1(DNAH11):c.3853-5C>G rs367628980
NM_001277115.1(DNAH11):c.3946A>G (p.Met1316Val) rs17144788
NM_001277115.1(DNAH11):c.4124G>A (p.Arg1375His) rs151018293
NM_001277115.1(DNAH11):c.4202A>G (p.Gln1401Arg) rs199629774
NM_001277115.1(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969
NM_001277115.1(DNAH11):c.4306C>T (p.Arg1436Trp) rs183489539
NM_001277115.1(DNAH11):c.4455A>G (p.Leu1485=) rs79119693
NM_001277115.1(DNAH11):c.4491G>A (p.Glu1497=) rs564202359
NM_001277115.1(DNAH11):c.4501-7A>T rs62447794
NM_001277115.1(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656
NM_001277115.1(DNAH11):c.4713T>C (p.Asp1571=) rs72657324
NM_001277115.1(DNAH11):c.4726-15T>C rs17144822
NM_001277115.1(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835
NM_001277115.1(DNAH11):c.4944+6delA rs531049764
NM_001277115.1(DNAH11):c.4945-12T>C rs141572016
NM_001277115.1(DNAH11):c.4961C>G (p.Ala1654Gly) rs376708182
NM_001277115.1(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084
NM_001277115.1(DNAH11):c.5152A>G (p.Ile1718Val) rs137855415
NM_001277115.1(DNAH11):c.5359T>C (p.Leu1787=) rs75932225
NM_001277115.1(DNAH11):c.5490G>A (p.Leu1830=) rs55666134
NM_001277115.1(DNAH11):c.54C>T (p.Thr18=) rs2285942
NM_001277115.1(DNAH11):c.5621+11A>T rs59447021
NM_001277115.1(DNAH11):c.5622-7C>A rs727503901
NM_001277115.1(DNAH11):c.5671C>T (p.Pro1891Ser) rs201704416
NM_001277115.1(DNAH11):c.576A>G (p.Ile192Met) rs72655972
NM_001277115.1(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.1(DNAH11):c.5924+1G>C rs886039340
NM_001277115.1(DNAH11):c.6117G>A (p.Ala2039=) rs78763603
NM_001277115.1(DNAH11):c.6274-5T>C rs74365849
NM_001277115.1(DNAH11):c.6302A>G (p.Asn2101Ser) rs201618995
NM_001277115.1(DNAH11):c.640A>G (p.Ile214Val) rs117064287
NM_001277115.1(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.1(DNAH11):c.6468+14T>C rs114409690
NM_001277115.1(DNAH11):c.6607T>C (p.Leu2203=) rs202012891
NM_001277115.1(DNAH11):c.661A>T (p.Met221Leu) rs147525173
NM_001277115.1(DNAH11):c.6683+13C>G rs17145077
NM_001277115.1(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194
NM_001277115.1(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628
NM_001277115.1(DNAH11):c.7332G>A (p.Pro2444=) rs28370951
NM_001277115.1(DNAH11):c.7335G>A (p.Ser2445=) rs11768670
NM_001277115.1(DNAH11):c.7570T>C (p.Leu2524=) rs2072220
NM_001277115.1(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001277115.1(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417
NM_001277115.1(DNAH11):c.7765G>A (p.Val2589Ile) rs145239537
NM_001277115.1(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258
NM_001277115.1(DNAH11):c.794G>A (p.Arg265His) rs192989152
NM_001277115.1(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.1(DNAH11):c.8279A>G (p.Gln2760Arg) rs72657366
NM_001277115.1(DNAH11):c.8299G>A (p.Ala2767Thr) rs200628085
NM_001277115.1(DNAH11):c.8362C>G (p.His2788Asp) rs147478795
NM_001277115.1(DNAH11):c.8478C>T (p.His2826=) rs62445328
NM_001277115.1(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835
NM_001277115.1(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854
NM_001277115.1(DNAH11):c.8798-5G>A rs189821372
NM_001277115.1(DNAH11):c.891A>G (p.Ala297=) rs201934527
NM_001277115.1(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001277115.1(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357
NM_001277115.1(DNAH11):c.9018G>A (p.Thr3006=) rs72657372
NM_001277115.1(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373
NM_001277115.1(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578
NM_001277115.1(DNAH11):c.9102+8G>A rs72657374
NM_001277115.1(DNAH11):c.939C>T (p.Ser313=) rs72655977
NM_001277115.1(DNAH11):c.9435G>A (p.Thr3145=) rs72657379
NM_001277115.1(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201
NM_001277115.1(DNAH11):c.9468T>C (p.Asp3156=) rs201207627
NM_001277115.1(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001277115.1(DNAH11):c.9925-7T>C rs146815254
NM_001277115.1(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389
NM_001277115.1(DNAH11):c.9939G>A (p.Val3313=) rs200349268
NM_001277115.1(DNAH11):c.9966A>G (p.Gln3322=) rs201050208
NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) rs138441172
NM_001369.2(DNAH5):c.10140A>G (p.Glu3380=) rs6554812
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10815delT (p.Pro3606Hisfs) rs397515540
NM_001369.2(DNAH5):c.1090-8T>C rs16902950
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496
NM_001369.2(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493
NM_001369.2(DNAH5):c.11570+13G>A rs80199741
NM_001369.2(DNAH5):c.11571-9A>G rs779715252
NM_001369.2(DNAH5):c.11586G>A (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11761+5A>G rs780205801
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>G rs77541151
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456
NM_001369.2(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750
NM_001369.2(DNAH5):c.12468A>C (p.Gly4156=) rs30169
NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046
NM_001369.2(DNAH5):c.12708T>C (p.Gly4236=) rs61744054
NM_001369.2(DNAH5):c.12910-11C>T rs30175
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13071C>T (p.Ala4357=) rs10077457
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13194_13197delCAGA (p.Asp4398Glufs) rs727502971
NM_001369.2(DNAH5):c.1321-15T>C rs202081804
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.13458dupT (p.Asn4487Terfs) rs775696136
NM_001369.2(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437
NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) rs140498500
NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.2(DNAH5):c.1356G>A (p.Lys452=) rs144748846
NM_001369.2(DNAH5):c.1395C>T (p.Ser465=) rs34580014
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1644+12A>G rs201116549
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) rs199951976
NM_001369.2(DNAH5):c.2578-10_2578-7delTTTT rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7delTTT rs71600031
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3084A>G (p.Glu1028=) rs766451124
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3241A>G (p.Met1081Val) rs16902880
NM_001369.2(DNAH5):c.3258T>C (p.Leu1086=) rs10057007
NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) rs61747516
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.3835-3delT rs35398031
NM_001369.2(DNAH5):c.4254G>A (p.Leu1418=) rs548183364
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4431C>T (p.Ser1477=) rs74451896
NM_001369.2(DNAH5):c.4509C>T (p.Thr1503=) rs138157585
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) rs34671383
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5272-15dupT rs35337694
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.58-13T>C rs115758625
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6039A>C (p.Arg2013=) rs112102932
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6444+8A>G rs1348690
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001369.2(DNAH5):c.7065T>C (p.Asp2355=) rs149045168
NM_001369.2(DNAH5):c.7274G>A (p.Arg2425His) rs35900306
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.832delG (p.Ala278Argfs) rs727502977
NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811
NM_001369.2(DNAH5):c.8449-12T>C rs111313933
NM_001369.2(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8805G>C (p.Met2935Ile) rs77874614
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=) rs111995400
NM_001369.2(DNAH5):c.88C>T (p.Arg30Trp) rs114220185
NM_001369.2(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001369.2(DNAH5):c.9365delT (p.Leu3122Terfs) rs1060501460
NM_001369.2(DNAH5):c.9449delG (p.Gly3150Alafs) rs727504802
NM_001369.2(DNAH5):c.9522G>A (p.Thr3174=) rs35233147
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.2(DNAH5):c.9721-12A>T rs12655133
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_002055.4(GFAP):c.*1001G>A rs1042329
NM_002055.4(GFAP):c.*1074C>T rs117405516
NM_002055.4(GFAP):c.*1522T>C rs17027
NM_002055.4(GFAP):c.*1620C>T rs7049
NM_002055.4(GFAP):c.*28C>G rs11558961
NM_002055.4(GFAP):c.*338C>T rs8067254
NM_002055.4(GFAP):c.*814T>A rs3744470
NM_002408.3(MGAT2):c.261G>T (p.Leu87=) rs2228449
NM_012144.3(DNAI1):c.1003G>A (p.Val335Ile) rs11793196
NM_012144.3(DNAI1):c.1460T>G (p.Val487Gly) rs11999454
NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276
NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450
NM_012144.3(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696
NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_012144.3(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744
NM_012144.3(DNAI1):c.179C>T (p.Ala60Val) rs16931549
NM_012144.3(DNAI1):c.180G>A (p.Ala60=) rs201120508
NM_012144.3(DNAI1):c.1902C>T (p.His634=) rs139197229
NM_012144.3(DNAI1):c.1929C>A (p.Ile643=) rs146434058
NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del) rs397515563
NM_012144.3(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.3(DNAI1):c.297A>G (p.Gln99=) rs77344166
NM_012144.3(DNAI1):c.370C>T (p.Arg124Cys) rs116938457
NM_012144.3(DNAI1):c.378A>G (p.Glu126=) rs3818577
NM_012144.3(DNAI1):c.389-1G>C rs200488444
NM_012144.3(DNAI1):c.47A>G (p.Gln16Arg) rs148701985
NM_012144.3(DNAI1):c.526_528delGAA (p.Glu176del) rs878854967
NM_012144.3(DNAI1):c.639G>A (p.Thr213=) rs78865254
NM_012144.3(DNAI1):c.81+5delG rs200411544
NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012144.3(DNAI1):c.978A>C (p.Gln326His) rs16931555
NM_012472.5(LRRC6):c.1162G>A (p.Gly388Ser) rs77289466
NM_012472.5(LRRC6):c.1245A>G (p.Lys415=) rs149631064
NM_012472.5(LRRC6):c.1397T>C (p.Ile466Thr) rs9297853
NM_012472.5(LRRC6):c.283C>T (p.Leu95=) rs74599901
NM_012472.5(LRRC6):c.609C>T (p.Asn203=) rs35956157
NM_015896.3(ZMYND10):c.797T>C (p.Leu266Pro) rs200913791
NM_017802.3(DNAAF5):c.1245C>T (p.Ala415=) rs146922072
NM_017802.3(DNAAF5):c.1678C>T (p.Arg560Cys) rs73258248
NM_017802.3(DNAAF5):c.1689T>C (p.Ile563=) rs151227818
NM_017802.3(DNAAF5):c.2082+8delG rs878855035
NM_017802.3(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017802.3(DNAAF5):c.2564A>G (p.Gln855Arg) rs78491700
NM_017950.3(CCDC40):c.-36C>T rs73437681
NM_017950.3(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951
NM_017950.3(CCDC40):c.1131C>T (p.Cys377=) rs74692882
NM_017950.3(CCDC40):c.1159+12C>T rs2289533
NM_017950.3(CCDC40):c.1312A>T (p.Lys438Ter)
NM_017950.3(CCDC40):c.1338C>T (p.Leu446=) rs61734950
NM_017950.3(CCDC40):c.1449C>T (p.Thr483=) rs116824266
NM_017950.3(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579
NM_017950.3(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354
NM_017950.3(CCDC40):c.1468G>A (p.Val490Met) rs200902099
NM_017950.3(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683
NM_017950.3(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406
NM_017950.3(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_017950.3(CCDC40):c.1889C>T (p.Ala630Val) rs61749058
NM_017950.3(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223
NM_017950.3(CCDC40):c.2226C>T (p.Ser742=) rs72849355
NM_017950.3(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307
NM_017950.3(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086
NM_017950.3(CCDC40):c.2323G>A (p.Val775Met) rs60684213
NM_017950.3(CCDC40):c.2332C>T (p.Leu778=) rs202075842
NM_017950.3(CCDC40):c.2336G>A (p.Arg779His) rs183809462
NM_017950.3(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501
NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) rs397515393
NM_017950.3(CCDC40):c.2604C>T (p.Phe868=) rs61749027
NM_017950.3(CCDC40):c.2712-1G>T rs370706991
NM_017950.3(CCDC40):c.2784C>T (p.Ile928=) rs118143944
NM_017950.3(CCDC40):c.2785G>A (p.Gly929Ser) rs59896146
NM_017950.3(CCDC40):c.2868G>A (p.Lys956=) rs1982243
NM_017950.3(CCDC40):c.2892G>A (p.Ala964=) rs146360951
NM_017950.3(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.3(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.3(CCDC40):c.2958C>T (p.Leu986=) rs78945041
NM_017950.3(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035
NM_017950.3(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093
NM_017950.3(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.3(CCDC40):c.3340G>A (p.Val1114Met) rs61740509
NM_017950.3(CCDC40):c.334A>G (p.Thr112Ala) rs201709592
NM_017950.3(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.3(CCDC40):c.504G>A (p.Pro168=) rs74000351
NM_017950.3(CCDC40):c.507G>A (p.Ser169=) rs2885349
NM_017950.3(CCDC40):c.630C>T (p.Ser210=) rs117419007
NM_017950.3(CCDC40):c.677-4C>G rs2289530
NM_017950.3(CCDC40):c.850G>C (p.Asp284His) rs201042940
NM_017950.3(CCDC40):c.873C>T (p.Phe291=) rs2289531
NM_017950.3(CCDC40):c.946G>A (p.Ala316Thr) rs61998241
NM_017950.3(CCDC40):c.966C>T (p.Ala322=) rs369089505
NM_018139.2(DNAAF2):c.129C>T (p.Leu43=) rs567371975
NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407
NM_018139.2(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418
NM_018139.2(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854
NM_018139.2(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352
NM_018139.2(DNAAF2):c.1494G>A (p.Ser498=) rs2985688
NM_018139.2(DNAAF2):c.1584T>A (p.Asn528Lys) rs144077436
NM_018139.2(DNAAF2):c.1626G>C (p.Arg542=) rs35763780
NM_018139.2(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448
NM_018139.2(DNAAF2):c.1851C>T (p.Asn617=) rs147090213
NM_018139.2(DNAAF2):c.1953A>G (p.Pro651=) rs34352773
NM_018139.2(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590
NM_018139.2(DNAAF2):c.2388C>T (p.His796=) rs140997181
NM_018139.2(DNAAF2):c.423C>T (p.Val141=) rs373251065
NM_018139.2(DNAAF2):c.561C>T (p.Thr187=) rs529083217
NM_018139.2(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429
NM_018139.2(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935
NM_018139.2(DNAAF2):c.78C>T (p.Ala26=) rs7156297
NM_021147.4(CCNO):c.134C>A (p.Pro45His) rs139606873
NM_021147.4(CCNO):c.940G>A (p.Glu314Lys) rs114088695
NM_023036.4(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362
NM_023036.4(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472
NM_023036.4(DNAI2):c.1574C>T (p.Ala525Val) rs145602856
NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589
NM_023036.4(DNAI2):c.747C>T (p.Gly249=) rs148488355
NM_023036.4(DNAI2):c.759G>A (p.Ala253=) rs142656395
NM_023036.4(DNAI2):c.834C>T (p.Thr278=) rs34159194
NM_023036.4(DNAI2):c.933G>A (p.Lys311=) rs570168701
NM_023036.5(DNAI2):c.1053G>A (p.Thr351=) rs34392071
NM_023036.5(DNAI2):c.1131G>A (p.Pro377=) rs59499600
NM_023036.5(DNAI2):c.1188G>A (p.Arg396=) rs139935771
NM_023036.5(DNAI2):c.1572G>A (p.Lys524=) rs2279122
NM_023036.5(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_023036.5(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646
NM_023036.5(DNAI2):c.234G>A (p.Glu78=) rs35985071
NM_023036.5(DNAI2):c.468-4G>T rs146462823
NM_023036.5(DNAI2):c.865-5A>G rs8076337
NM_023036.5(DNAI2):c.949G>A (p.Ala317Thr) rs145798624
NM_031427.3(DNAL1):c.153-12G>C rs201880561
NM_031427.3(DNAL1):c.391+9A>G rs149911093
NM_031427.3(DNAL1):c.532+11C>T rs72721725
NM_033124.5(CCDC65):c.877_878del (p.Ile293Profs) rs863223325
NM_080860.3(RSPH1):c.727+5G>A (p.Ala244ValfsTer22) rs200382776
NM_130810.3(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621
NM_144577.3(CCDC114):c.1314C>T (p.Asp438=) rs150259992
NM_144577.3(CCDC114):c.1391+5G>A rs201133219
NM_144577.3(CCDC114):c.1539C>T (p.Asp513=) rs74722451
NM_144577.3(CCDC114):c.1677C>T (p.His559=) rs147072026
NM_144577.3(CCDC114):c.250-10T>C rs141961809
NM_144577.3(CCDC114):c.471C>T (p.Asp157=) rs190978775
NM_144577.3(CCDC114):c.745G>A (p.Gly249Arg) rs73942222
NM_145038.4(DRC1):c.352C>T (p.Gln118Ter) rs142371860
NM_152732.4(RSPH9):c.-18A>G rs59110261
NM_152732.4(RSPH9):c.512G>A (p.Arg171Gln) rs201032669
NM_152732.4(RSPH9):c.781G>A (p.Val261Ile) rs16896629
NM_152732.4(RSPH9):c.798C>T (p.Gly266=) rs770913202
NM_178452.4(DNAAF1):c.1698+1G>A rs139519641
NM_178452.5(DNAAF1):c.*18T>C rs2288024
NM_178452.5(DNAAF1):c.1030+14C>T rs202113269
NM_178452.5(DNAAF1):c.1031-5A>T rs79772571
NM_178452.5(DNAAF1):c.1077G>A (p.Ala359=) rs35504640
NM_178452.5(DNAAF1):c.1083C>T (p.Gly361=) rs200487337
NM_178452.5(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234
NM_178452.5(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705
NM_178452.5(DNAAF1):c.1227T>G (p.Gly409=) rs148674729
NM_178452.5(DNAAF1):c.1245C>G (p.Thr415=) rs147804813
NM_178452.5(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733
NM_178452.5(DNAAF1):c.1299C>T (p.Asp433=) rs141074491
NM_178452.5(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199
NM_178452.5(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400
NM_178452.5(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276
NM_178452.5(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164
NM_178452.5(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367
NM_178452.5(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397
NM_178452.5(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677
NM_178452.5(DNAAF1):c.1848G>A (p.Ala616=) rs76108116
NM_178452.5(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021
NM_178452.5(DNAAF1):c.228C>T (p.His76=) rs61743547
NM_178452.5(DNAAF1):c.507G>C (p.Leu169=) rs370128838
NM_178452.5(DNAAF1):c.685C>T (p.His229Tyr) rs35496754
NM_178452.5(DNAAF1):c.780G>C (p.Gln260His) rs112051327
NM_178452.5(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225
NM_178452.5(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069
NM_178452.5(DNAAF1):c.988C>A (p.Arg330=) rs112191420
NM_181426.1(CCDC39):c.1072delA (p.Thr358Glnfs) rs587778822
NM_181426.1(CCDC39):c.1363-3delC rs551191744
NM_181426.1(CCDC39):c.2278A>G (p.Thr760Ala) rs79386936
NM_181426.1(CCDC39):c.2299T>C (p.Leu767=) rs200913298
NM_181426.1(CCDC39):c.2301G>A (p.Leu767=) rs11914833
NM_181426.1(CCDC39):c.2397G>A (p.Val799=) rs7612917
NM_181426.1(CCDC39):c.2432G>A (p.Arg811His) rs61733583
NM_181426.1(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004
NM_181426.1(CCDC39):c.2660dupT (p.Ser888Ilefs) rs200353947
NM_181426.1(CCDC39):c.830_831delCA (p.Thr277Argfs) rs773801386
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972
NM_181426.2(CCDC39):c.1034+2T>A rs1210953680
NM_181426.2(CCDC39):c.1035-5T>C rs200089274
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) rs2338436
NM_181426.2(CCDC39):c.1363-13dup rs374074877
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159
NM_181426.2(CCDC39):c.210+4C>T rs182803063
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu) rs61733579
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495
NM_181426.2(CCDC39):c.357+1G>C rs397515392
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) rs57838737
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898
NM_181426.2(CCDC39):c.930+12C>G rs1401333
NM_213607.2(CCDC103):c.*4G>A rs8079308
NM_213607.2(CCDC103):c.276+6T>C rs74349463
NM_213607.2(CCDC103):c.461A>C (p.His154Pro) rs145457535
NM_213607.2(CCDC103):c.568_569dup (p.Ser190Argfs) rs746242380

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