ClinVar Miner

List of variants studied for colonic neoplasm by Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000059.3(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_002912.4(REV3L):c.559A>T (p.Arg187Trp) rs1057519367
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365

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