ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) rs786205566
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_052989.3(IFT122):c.998C>A (p.Ser333Tyr)

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