ClinVar Miner

List of variants in gene DDB2 reported as uncertain significance for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000107.2(DDB2):c.*126T>C rs554676341
NM_000107.2(DDB2):c.*151C>A rs4647760
NM_000107.2(DDB2):c.*334_*335del rs4647761
NM_000107.2(DDB2):c.-123T>G rs565058800
NM_000107.2(DDB2):c.-31G>C rs375840702
NM_000107.2(DDB2):c.-56A>G rs777159854
NM_000107.2(DDB2):c.1023+9C>T rs372842821
NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) rs780665825
NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) rs886048362
NM_000107.2(DDB2):c.1234+9G>A rs756484790
NM_000107.2(DDB2):c.264+8A>G rs374094218
NM_000107.2(DDB2):c.577G>A (p.Val193Ile) rs200406558
NM_000107.2(DDB2):c.702+12G>A rs55847708
NM_000107.2(DDB2):c.738G>A (p.Thr246=) rs144266685
NM_000107.2(DDB2):c.876C>T (p.Asn292=) rs778504979
NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) rs761699363
NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) rs886048361
NM_000107.2(DDB2):c.930C>T (p.Ser310=) rs549041558
NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) rs776075728
NM_000107.2(DDB2):c.984G>A (p.Pro328=) rs138255134

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