ClinVar Miner

List of variants reported as likely benign for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153

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