ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic for Ciliary dyskinesia, primary, 3

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Total variants: 29
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HGVS dbSNP
DNAH5, 1-BP INS, 5563A
DNAH5, IVS74AS, G-C, -1
GRCh37/hg19 5p15.2(chr5:13844711-13845454)
NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972
NM_001369.2(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.12973C>T (p.Gln4325Ter)
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853
NM_001369.2(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.2(DNAH5):c.3139G>A (p.Gly1047Arg) rs751785066
NM_001369.2(DNAH5):c.4113del (p.Gln1372fs)
NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107
NM_001369.2(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.2(DNAH5):c.5130dup (p.Arg1711fs) rs1580543863
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.2(DNAH5):c.5710-2A>G rs548521732
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231
NM_001369.2(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.11725C>T rs1060501464
NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter)
NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA

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