ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met) rs766316984 0.00001
NM_001369.3(DNAH5):c.11456-7C>T rs2546564339
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu) rs922374480
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly) rs143679999

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