ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Biology Pathology Center, Lille University Hospital

Included ClinVar conditions (272):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs) rs746361802 0.00021
NM_018076.5(ODAD2):c.2097+1G>T rs149368374 0.00011
NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs) rs2038565518
NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter) rs1789346276
NM_001277115.2(DNAH11):c.11968-1G>C rs1783569129
NM_001277115.2(DNAH11):c.6452del (p.Glu2151fs) rs1784195520
NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter) rs1298746949
NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter) rs1788086604
NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter) rs1273109738
NM_001369.3(DNAH5):c.4113del (p.Gln1372fs) rs1769225531
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA
NM_015512.5(DNAH1):c.9340C>T (p.Gln3114Ter) rs1704217868
NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter) rs2038760864
NM_031421.5(ODAD4):c.245del (p.Lys82fs) rs781949585
NM_130810.4(DNAAF4):c.589_593del (p.Tyr197fs) rs2058179740
NM_181426.2(CCDC39):c.1035-227_1167+308del rs1718195095
NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs) rs1718119792
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642

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