ClinVar Miner

List of variants in gene DNAH5 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.*84C>T rs151143347 0.00442
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=) rs138639741 0.00252
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00086
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00032
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) rs148017278 0.00024
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) rs569428035 0.00015
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.4440C>T (p.Cys1480=) rs376618204 0.00011
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00006
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00006
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu) rs139857637 0.00006
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964 0.00001
NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys) rs377439232 0.00001
NM_001369.3(DNAH5):c.11069T>G (p.Phe3690Cys) rs1750171725
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.12303C>T (p.Asn4101=) rs2126519296
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
NM_001369.3(DNAH5):c.13037G>A (p.Gly4346Asp)
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=) rs182512638
NM_001369.3(DNAH5):c.3043A>C (p.Thr1015Pro) rs756780275
NM_001369.3(DNAH5):c.3966A>C (p.Ser1322=) rs775449337
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.5712T>C (p.Cys1904=) rs2151857507
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.7062T>G (p.Asp2354Glu) rs2151800621
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.