ClinVar Miner

List of variants reported as pathogenic for breast cancer by Faculty of Pharmacy, Ain Shams University

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter) rs690016539
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter) rs690016540
NM_000059.4(BRCA2):c.3293del (p.Asn1098fs) rs690016541
NM_000059.4(BRCA2):c.3641del (p.Val1214fs) rs690016542
NM_000059.4(BRCA2):c.787dup (p.Ser263fs) rs690016538
NM_007294.4(BRCA1):c.5205del (p.Val1736fs) rs587781258

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