ClinVar Miner

List of variants studied for DNA repair disease by Pathway Genomics

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_032043.2(BRIP1):c.2364T>A (p.Asn788Lys) rs587783045
NM_032043.2(BRIP1):c.2564G>A (p.Arg855His) rs200894063

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