ClinVar Miner

List of variants reported as not provided by Breast Cancer Information Core (BIC) (BRCA2)

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1114= (p.Asn372=) rs144848 0.76884
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_000059.4(BRCA2):c.8755-66T>C rs4942486 0.51824
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter) rs80358419
NM_000059.4(BRCA2):c.2049_2050del (p.Gln684fs) rs80359319
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter) rs80358515
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6513= (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter) rs80358971

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