ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance for Malignant tumor of breast

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.548-80T>C rs8176143 0.00692
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.4987-33C>T rs367645566 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) rs80357451 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile) rs587783040 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335 0.00001
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser) rs879254130 0.00001
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser) rs753286589 0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4484+15T>C rs760275914 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.4987-11T>C rs80358170 0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His) rs587781761 0.00001
NM_007294.4(BRCA1):c.548-15G>A rs755221482 0.00001
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) rs80357183 0.00001
NM_007294.4(BRCA1):c.80+7C>T rs80358098 0.00001
NM_007294.4(BRCA1):c.810T>C (p.His270=) rs778359104 0.00001
NM_007294.4(BRCA1):c.-9C>G rs1555601059
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala) rs1555592050
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu) rs876658873
NM_007294.4(BRCA1):c.134+3A>G rs80358064
NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg) rs80356863
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu) rs1135401844
NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg) rs2054786724
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val) rs1064795358
NM_007294.4(BRCA1):c.203T>C (p.Ile68Thr) rs80357116
NM_007294.4(BRCA1):c.212+10T>G rs80358174
NM_007294.4(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg) rs1555588991
NM_007294.4(BRCA1):c.3037G>A (p.Glu1013Lys) rs1555588500
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val) rs397507211
NM_007294.4(BRCA1):c.4318G>C (p.Glu1440Gln) rs1555584070
NM_007294.4(BRCA1):c.4357+4T>C rs1555583978
NM_007294.4(BRCA1):c.436T>C (p.Ser146Pro) rs1555596290
NM_007294.4(BRCA1):c.4393A>C (p.Ile1465Leu) rs1567779778
NM_007294.4(BRCA1):c.4416_4417del (p.Ser1473fs) rs886040231
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly) rs28897674
NM_007294.4(BRCA1):c.4595T>C (p.Val1532Ala) rs2052601019
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4675+3A>G rs80358082
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly) rs1555579627
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.515A>G (p.Gln172Arg) rs1555594863
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly) rs80357123
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His) rs398122695
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_007294.4(BRCA1):c.5372T>A (p.Val1791Glu) rs864622244
NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter) rs776323117
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly) rs80357451
NM_007294.4(BRCA1):c.671-6T>G rs878854964
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro) rs879255288
NM_007294.4(BRCA1):c.81-14C>A rs80358006
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln) rs756859863
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln) rs80357066

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