ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs) rs397507718
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) rs80359515
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs) rs397507410
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159

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