ClinVar Miner

List of variants in gene DNAH5 reported by Pars Genome Lab

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001369.3(DNAH5):c.277+118A>G rs12659700 0.74880
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.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 0.43546
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.1198-45A>G rs13162553 0.43382
NM_001369.3(DNAH5):c.3397-51T>C rs10513159 0.42101
NM_001369.3(DNAH5):c.6687+110A>G rs10035657 0.41445
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.5172C>T (p.Ala1724=) rs10041113 0.40226
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.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.4796+57A>C rs7724453 0.39443
NM_001369.3(DNAH5):c.4053+64G>A rs1445810 0.39405
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.9721-12A>T rs12655133 0.35219
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.34505
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 0.30675
NM_001369.3(DNAH5):c.3175-34G>A rs13170062 0.26940
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_001369.3(DNAH5):c.1537-102T>A rs67065537 0.24742
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.5271+72C>T rs16902837 0.18085
NM_001369.3(DNAH5):c.4053+32C>T rs13156044 0.12402
NM_001369.3(DNAH5):c.12034-24T>C rs17203442 0.11146
NM_001369.3(DNAH5):c.3834+40C>T rs35621834 0.10565
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.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_001369.3(DNAH5):c.2052+22C>A rs150480592 0.00621
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001369.3(DNAH5):c.799-11C>T rs371868451 0.00001
NM_001369.3(DNAH5):c.1198-68C>T rs13180613
NM_001369.3(DNAH5):c.5115-49G>C rs10041099
NM_001369.3(DNAH5):c.6989-18T>C rs2151800885

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