ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000380.3(XPA):c.390-1G>C rs750218942
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) rs121908940
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986

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