ClinVar Miner

List of variants studied 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: 16
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NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000123.3(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) rs9514067
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.1479+2dupT rs776705174
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_022725.3(FANCF):c.690del (p.Gly231fs) rs747622521

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