ClinVar Miner

List of variants reported as uncertain significance for breast disorder by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.445C>T (p.His149Tyr) rs1161054161 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His) rs2086422796
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_005732.4(RAD50):c.1090A>G (p.Ile364Val) rs1750641668
NM_005732.4(RAD50):c.1928A>T (p.Asp643Val) rs1750764737
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val) rs2053336861

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