ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000003.12:g.10073363G>A
NC_000015.10:g.90747491G>C
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_004629.1(FANCG):c.85-2A>T

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