ClinVar Miner

List of variants in gene DDB2 studied for Xeroderma pigmentosum

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_000107.3(DDB2):c.644T>C (p.Met215Thr) rs4647750 0.00133
NM_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581 0.00039
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.870T>C (p.Pro290=) rs376783024 0.00006
NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn) rs375649516 0.00004
NM_000107.3(DDB2):c.264+8A>G rs374094218 0.00004
NM_000107.3(DDB2):c.619C>T (p.Leu207=) rs753070223 0.00003
NM_000107.3(DDB2):c.930C>T (p.Ser310=) rs549041558 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.915C>G (p.Thr305=) rs758199547 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.540A>G (p.Thr180=) rs1440844986
NM_000107.3(DDB2):c.603-4C>G rs2135511675
NM_000107.3(DDB2):c.869C>T (p.Pro290Leu) rs2135512289

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