ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 3

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.4797-93C>A rs1867677 0.97782
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001369.3(DNAH5):c.277+118A>G rs12659700 0.74712
NM_001369.3(DNAH5):c.11761+93G>T rs6554808 0.60670
NM_001369.3(DNAH5):c.11762-45T>C rs3777093 0.60391
NM_001369.3(DNAH5):c.11570+35A>G rs3734109 0.57196
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_001369.3(DNAH5):c.*1048A>G rs2896111 0.49736
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_001369.3(DNAH5):c.13491+66T>C rs3734112 0.45951
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_001369.3(DNAH5):c.1320+269T>A rs12654693 0.43872
NM_001369.3(DNAH5):c.1198-45A>G rs13162553 0.43720
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_001369.3(DNAH5):c.1320+73T>C rs13179761 0.43433
NM_001369.3(DNAH5):c.1198-24C>A rs13180591 0.43394
NM_001369.3(DNAH5):c.3397-51T>C rs10513159 0.42101
NM_001369.3(DNAH5):c.6687+110A>G rs10035657 0.41260
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_001369.3(DNAH5):c.5710-58G>A rs9312849 0.40656
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40077
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001369.3(DNAH5):c.6842-78C>T rs6889720 0.39778
NM_001369.3(DNAH5):c.4054-59T>C rs11748811 0.39508
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001369.3(DNAH5):c.4796+41G>A rs7704417 0.39490
NM_001369.3(DNAH5):c.4053+64G>A rs1445810 0.39484
NM_001369.3(DNAH5):c.4796+57A>C rs7724453 0.39443
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_001369.3(DNAH5):c.4796+264A>C rs7724087 0.36921
NM_001369.3(DNAH5):c.4797-29C>A rs1502043 0.36619
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.35253
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34864
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.34761
NM_001369.3(DNAH5):c.5272-39T>A rs1910089 0.34183
NM_001369.3(DNAH5):c.5114+22A>T rs4701988 0.33456
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30805
NM_001369.3(DNAH5):c.3175-34G>A rs13170062 0.27467
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.24415
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001369.3(DNAH5):c.7230+32A>G rs56046501 0.23667
NM_001369.3(DNAH5):c.975+30A>C rs35925547 0.22429
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_001369.3(DNAH5):c.4053+32C>T rs13156044 0.12402
NM_001369.3(DNAH5):c.12034-24T>C rs17203442 0.10722
NM_001369.3(DNAH5):c.3834+40C>T rs35621834 0.10439
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10158
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_001369.3(DNAH5):c.13491+37A>G rs10069041 0.06931
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02695
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02672
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02453
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02176
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_001369.3(DNAH5):c.*649G>C rs77289648 0.02130
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02009
NM_001369.3(DNAH5):c.6989-13T>C rs112344370 0.01579
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01551
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01375
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01240
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.12280-17T>C rs10214399 0.00956
NM_001369.3(DNAH5):c.*1591T>A rs115520709 0.00953
NM_001369.3(DNAH5):c.5484+17T>C rs16902828 0.00937
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00745
NM_001369.3(DNAH5):c.*775G>A rs146040448 0.00728
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_001369.3(DNAH5):c.799-11C>T rs371868451 0.00001
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.1198-68C>T rs13180613
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.5115-49G>C rs10041099

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