ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Center for Precision Medicine, Meizhou People's Hospital

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1282del (p.Leu428fs) rs2137469532
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs) rs2137487619
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.36del (p.Phe12fs) rs80359393
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs) rs80359401
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4790del (p.Ser1597fs) rs2137510249
NM_000059.4(BRCA2):c.5242del (p.Ser1748fs) rs2137515525
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter) rs276174858
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs) rs397507829
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs) rs1566234955
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.684del (p.Asn228fs) rs2137461104
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.9073_9078del (p.Ile3025_Gln3026del) rs2137623346
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759

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