ClinVar Miner

List of variants in gene DDB2 reported as likely benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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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.738G>A (p.Thr246=) rs144266685 0.00268
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.264+8A>G rs374094218 0.00006
NM_000107.3(DDB2):c.870T>C (p.Pro290=) rs376783024 0.00006
NM_000107.3(DDB2):c.930C>T (p.Ser310=) rs549041558 0.00003
NM_000107.3(DDB2):c.915C>G (p.Thr305=) rs758199547 0.00001
NM_000107.3(DDB2):c.540A>G (p.Thr180=) rs1440844986
NM_000107.3(DDB2):c.577G>A (p.Val193Ile) rs200406558

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