ClinVar Miner

List of variants reported as pathogenic for Ciliopathy by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)	rs200603439	0.00008
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)	rs386833757
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs)	rs1567902051

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