ClinVar Miner

List of variants reported as pathogenic for breast carcinoma by Genomic Center, National Cancer Institute

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.10248del (p.Lys3416fs) rs776212316
NM_000059.4(BRCA2):c.1053del (p.Lys351fs) rs886040342
NM_000059.4(BRCA2):c.1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.2588del (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.5297del (p.Asn1766fs) rs1555284157
NM_000059.4(BRCA2):c.5362del (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)
NM_000059.4(BRCA2):c.5934del (p.Phe1978fs) rs80359548
NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp) rs2072384735
NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer) rs397507899
NM_000059.4(BRCA2):c.728del (p.Asn243fs) rs886040697
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs) rs878853303
NM_000059.4(BRCA2):c.9163del (p.Leu3055fs) rs2072913259
NM_007294.4(BRCA1):c.1728del (p.Glu577fs) rs397507192
NM_007294.4(BRCA1):c.3982del (p.Ser1328fs) rs2053490037

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