ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
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.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
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.13037G>A (p.Gly4346Asp)
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.4972A>G (p.Ile1658Val) rs535557021
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.8906C>G (p.Ala2969Gly)

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