ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic for Primary ciliary dyskinesia

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Total variants: 30
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HGVS dbSNP
NC_000005.9:g.(?_13769069)_(13794167_?)del
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
NM_001369.2(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006
NM_001369.2(DNAH5):c.11211+1G>A rs1554033855
NM_001369.2(DNAH5):c.12499+1G>A
NM_001369.2(DNAH5):c.12499+2T>G rs1484826593
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.193-2A>G
NM_001369.2(DNAH5):c.2260-1G>A rs1561524235
NM_001369.2(DNAH5):c.4053+1G>T rs1060501466
NM_001369.2(DNAH5):c.439-2A>G
NM_001369.2(DNAH5):c.4796+1G>A rs989235687
NM_001369.2(DNAH5):c.5883-2A>G
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001369.2(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.2(DNAH5):c.799-269_1072del
NM_001369.2(DNAH5):c.8010+3A>G
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974
NM_001369.2(DNAH5):c.8449G>T (p.Asp2817Tyr)
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8821-1G>C rs1060501454
NM_001369.2(DNAH5):c.9105+2T>C
NM_001369.2(DNAH5):c.9374-2A>T rs1561215953
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) rs1305797678
NM_001369.2(DNAH5):c.9986T>C (p.Leu3329Pro) rs878854459

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