ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) rs1322871899 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001377.3(DYNC2H1):c.3459-1G>A rs1860730801
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_152384.3(BBS5):c.258+2T>C rs1559122157

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