ClinVar Miner

List of variants studied for Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del) rs747496593

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