ClinVar Miner

List of variants studied for DNA repair disease by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000380.3(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_004628.4(XPC):c.2034-1G>A rs869025275

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