ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 1 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_052989.3(IFT122):c.1993-7G>C rs2285354

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