ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00009
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021 0.00003
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) rs753130398 0.00001
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu) rs561380021 0.00001
NM_001369.3(DNAH5):c.1255del (p.Ser419fs) rs2547129637
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.3275T>C (p.Ile1092Thr) rs2547014381
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro) rs777013412
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471

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