ClinVar Miner

List of variants reported as uncertain significance 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: 5
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val) rs1867124708
NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe) rs770790055

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