ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00176
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00009
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln) rs761289479 0.00004
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.2432-3A>G rs1773163926 0.00001
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly) rs1755004469 0.00001
NM_001369.3(DNAH5):c.10555+1G>T rs2546618242
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu) rs1326900384
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
NM_001369.3(DNAH5):c.11163del (p.Gly3722fs) rs2126689141
NM_001369.3(DNAH5):c.1344_1348del (p.Gln451fs) rs2547127627
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs) rs2151981160
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.2518_2519del (p.Cys841fs) rs2547057248
NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu) rs2547038533
NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser) rs200249508
NM_001369.3(DNAH5):c.3774del (p.Ala1259fs) rs2546995755
NM_001369.3(DNAH5):c.4597-1G>A rs2151905981
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5563del (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.877dup (p.Arg293fs) rs781566109
NM_001369.3(DNAH5):c.931_934del (p.Ala311fs) rs2547144109
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.