ClinVar Miner

List of variants in gene TP53, WRAP53 studied for Dyskeratosis congenita, autosomal recessive 3

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_018081.2(WRAP53):c.-206G>A rs17551150 0.00197
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222 0.00021

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