ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group E by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000107.3(DDB2):c.818G>A (p.Arg273His) rs121434640 0.00002
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641

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