ClinVar Miner

List of variants studied for DNA repair disease by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000400.3(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.3(ERCC2):c.184-1G>T rs1568546120
NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter) rs964247601

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