ClinVar Miner

List of variants in gene DNAH5 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln) rs116069486 0.00153
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) rs182512638 0.00013
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) rs201473584 0.00010
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00008
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00007
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr) rs749125278
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe) rs757542755
NM_001369.3(DNAH5):c.4973T>C (p.Ile1658Thr)
NM_001369.3(DNAH5):c.8369A>T (p.Tyr2790Phe) rs762235569

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