ClinVar Miner

List of variants in gene DDB2 reported as uncertain significance for Xeroderma pigmentosum

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000107.3(DDB2):c.1120G>A (p.Val374Met) rs148299549 0.00028
NM_000107.3(DDB2):c.674T>C (p.Val225Ala) rs202083037 0.00021
NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn) rs375649516 0.00004
NM_000107.3(DDB2):c.619C>T (p.Leu207=) rs753070223 0.00003
NM_000107.3(DDB2):c.1234+9G>A rs756484790 0.00001
NM_000107.3(DDB2):c.702+5G>A rs764606058 0.00001
NM_000107.3(DDB2):c.*334_*335del rs4647761
NM_000107.3(DDB2):c.196T>G (p.Cys66Gly) rs1275847261
NM_000107.3(DDB2):c.603-4C>G rs2135511675
NM_000107.3(DDB2):c.869C>T (p.Pro290Leu) rs2135512289

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