ClinVar Miner

List of variants in gene DNAH5 reported as benign for Primary ciliary dyskinesia

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Total variants: 119
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HGVS dbSNP
NM_001369.2(DNAH5):c.10035T>C (p.Cys3345=) rs150268680
NM_001369.2(DNAH5):c.10140A>G (p.Glu3380=) rs6554812
NM_001369.2(DNAH5):c.10347C>T (p.Ala3449=) rs150773884
NM_001369.2(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941
NM_001369.2(DNAH5):c.10473G>A (p.Thr3491=) rs2401809
NM_001369.2(DNAH5):c.10878G>A (p.Thr3626=) rs188428209
NM_001369.2(DNAH5):c.1090-8T>C rs16902950
NM_001369.2(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>G rs77541151
NM_001369.2(DNAH5):c.12401C>T (p.Ala4134Val) rs30168
NM_001369.2(DNAH5):c.12465A>G (p.Gln4155=) rs34924315
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.1251C>T (p.Thr417=) rs112911055
NM_001369.2(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046
NM_001369.2(DNAH5):c.12694G>A (p.Asp4232Asn) rs564134623
NM_001369.2(DNAH5):c.12708T>C (p.Gly4236=) rs61744054
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.2(DNAH5):c.13071C>T (p.Ala4357=) rs10077457
NM_001369.2(DNAH5):c.13125+10T>A rs2277047
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.1329G>A (p.Gln443=) rs141621142
NM_001369.2(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110
NM_001369.2(DNAH5):c.13359A>G (p.Thr4453=) rs3734111
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.1356G>A (p.Lys452=) rs144748846
NM_001369.2(DNAH5):c.1395C>T (p.Ser465=) rs34580014
NM_001369.2(DNAH5):c.1476G>A (p.Thr492=) rs150994380
NM_001369.2(DNAH5):c.1503T>C (p.Ile501=) rs3213936
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498
NM_001369.2(DNAH5):c.1731-11dup rs1489967874
NM_001369.2(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077
NM_001369.2(DNAH5):c.1830G>A (p.Gln610=) rs549164618
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.2229T>C (p.Asp743=) rs1445823
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997
NM_001369.2(DNAH5):c.2355C>T (p.Leu785=) rs112238091
NM_001369.2(DNAH5):c.2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.2891A>T (p.His964Leu) rs199698421
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.300G>C (p.Gly100=) rs543407739
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.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.3363T>G (p.Ser1121=) rs58266192
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.360T>C (p.Asp120=) rs368412855
NM_001369.2(DNAH5):c.36T>G (p.His12Gln) rs339445
NM_001369.2(DNAH5):c.3835-3del rs35398031
NM_001369.2(DNAH5):c.3987A>G (p.Lys1329=) rs146191243
NM_001369.2(DNAH5):c.4152A>G (p.Thr1384=) rs7703349
NM_001369.2(DNAH5):c.4254G>A (p.Leu1418=) rs548183364
NM_001369.2(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299
NM_001369.2(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551
NM_001369.2(DNAH5):c.4374G>T (p.Arg1458=) rs6554827
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.4807C>A (p.Pro1603Thr) rs369137751
NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) rs34671383
NM_001369.2(DNAH5):c.5115-4G>T rs141141086
NM_001369.2(DNAH5):c.5115-5T>C rs4429853
NM_001369.2(DNAH5):c.5172C>T (p.Ala1724=) rs10041113
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5272-15del rs35337694
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.5707C>T (p.Leu1903=) rs7719896
NM_001369.2(DNAH5):c.6039A>C (p.Arg2013=) rs112102932
NM_001369.2(DNAH5):c.6061+10A>G rs77957856
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6264C>T (p.Ala2088=) rs1348689
NM_001369.2(DNAH5):c.6444+8A>G rs1348690
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
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.71G>A (p.Gly24Glu) rs1530496
NM_001369.2(DNAH5):c.7274G>A (p.Arg2425His) rs35900306
NM_001369.2(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391
NM_001369.2(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.7752+7C>G rs143848918
NM_001369.2(DNAH5):c.7753-9C>G rs377367981
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8268A>C (p.Ser2756=) rs775185371
NM_001369.2(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155
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.8862G>T (p.Leu2954=) rs145381989
NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=) rs111995400
NM_001369.2(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.2(DNAH5):c.8940C>T (p.Ile2980=) rs144001451
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9150C>T (p.Ser3050=) rs77477793
NM_001369.2(DNAH5):c.9522G>A (p.Thr3174=) rs35233147
NM_001369.2(DNAH5):c.9681A>G (p.Lys3227=) rs138639741
NM_001369.2(DNAH5):c.9714C>T (p.Ala3238=) rs375561333
NM_001369.2(DNAH5):c.9721-8del rs560450857
NM_001369.3(DNAH5):c.11559T>C (p.Leu3853=)
NM_001369.3(DNAH5):c.12034-10dup
NM_001369.3(DNAH5):c.2432-13dup
NM_001369.3(DNAH5):c.6580-9dup
NM_001369.3(DNAH5):c.8225-8del

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