ClinVar Miner

List of variants in gene DNAH5 reported by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00131
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00048
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys) rs1409796457 0.00001
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) rs144958262
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893

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