ClinVar Miner

List of variants studied for Ciliopathy by Pediatric Genomics Discovery Program, Yale University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10309G>A (p.Glu3437Lys) rs865919156
NM_017721.5(CC2D1A):c.1186C>T (p.Arg396Ter)
NM_017721.5(CC2D1A):c.1264C>T (p.Gln422Ter)

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