ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive 3 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385

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