ClinVar Miner

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

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000059.4(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_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_001330368.2(C11orf65):c.641-8330del rs786203008
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004629.2(FANCG):c.85-2A>T rs759590778
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001

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