ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Genomic Center, National Cancer Institute

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.10220del (p.Asn3407fs) rs2137667759
NM_000059.4(BRCA2):c.10248del (p.Lys3416fs) rs776212316
NM_000059.4(BRCA2):c.1037del (p.Asn346fs) rs2137467012
NM_000059.4(BRCA2):c.1053del (p.Lys351fs) rs886040342
NM_000059.4(BRCA2):c.1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.18del (p.Glu7fs) rs80359298
NM_000059.4(BRCA2):c.2312del (p.Ile770_Leu771insTer)
NM_000059.4(BRCA2):c.2588del (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer) rs398122748
NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer) rs2137490962
NM_000059.4(BRCA2):c.35_36del (p.Phe11_Phe12insTer) rs80359393
NM_000059.4(BRCA2):c.3648del (p.Phe1216fs) rs2072485514
NM_000059.4(BRCA2):c.3708del (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.4031del (p.Asn1344fs) rs1405264241
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4948del (p.Ser1650fs) rs80359474
NM_000059.4(BRCA2):c.5153del (p.Asn1718fs) rs2137514441
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.6791del (p.Leu2264fs) rs2137530688
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.7534del (p.Ala2513fs) rs2137562694
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs) rs878853303
NM_000059.4(BRCA2):c.9163del (p.Leu3055fs) rs2072913259
NM_000059.4(BRCA2):c.9491del (p.Asn3164fs) rs2137654501
NM_000059.4(BRCA2):c.966del (p.Lys322_Val323insTer) rs1566222463
NM_000059.4(BRCA2):c.9800del (p.Lys3267fs) rs1566261027

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