ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 3 by Genome-Nilou Lab

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34864
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.34761
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30805
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.24415
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.3835-3del rs35398031

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