ClinVar Miner

List of variants in gene BRCA2 reported by Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.3(BRCA2):c.156_157insAlu
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter) rs398122741
NM_000059.4(BRCA2):c.2421dup (p.Glu808Ter) rs886040424
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.3263dup (p.Gln1089fs) rs80359379
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs) rs886040509
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs) rs80359430
NM_000059.4(BRCA2):c.429del (p.Val144fs) rs587781945
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5603_5606del (p.Asp1868fs) rs397507356
NM_000059.4(BRCA2):c.6082_6083del (p.Glu2028fs) rs886040634
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs) rs80359591
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter) rs2137461517
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8042_8043del (p.Thr2681fs) rs276174901
NM_000059.4(BRCA2):c.8487+1G>A rs81002798
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter) rs80359115
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9084del (p.Ala3029fs)
NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs) rs397507424
NM_000059.4(BRCA2):c.9310_9311del (p.Lys3104fs) rs80359756

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