ClinVar Miner

List of variants in gene BRCA1 studied for Neoplasm of the breast

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Gene type:
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Total variants: 101
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HGVS dbSNP
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.3(BRCA1):c.1299dup (p.Ser434fs) rs886037786
NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.3(BRCA1):c.1380dupA (p.Ile460_Phe461delinsIleIleTrpfs) rs80357714
NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1819A>G (p.Lys607Glu) rs80357220
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1966A>T (p.Asn656Tyr) rs786203455
NM_007294.3(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.3(BRCA1):c.213-1G>A rs80358146
NM_007294.3(BRCA1):c.213-2A>G rs397508940
NM_007294.3(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364
NM_007294.3(BRCA1):c.2401_2402TG[2] (p.Val802fs) rs80357706
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs) rs397508979
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter) rs886037787
NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.3(BRCA1):c.3071G>C (p.Ser1024Thr) rs757579891
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.3(BRCA1):c.3266del (p.Leu1089fs) rs886040109
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3819_3823del (p.Gln1273fs) rs886037785
NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) rs886037788
NM_007294.3(BRCA1):c.4118_4119AG[1] (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.3(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.3(BRCA1):c.4189A>C (p.Arg1397=) rs886037792
NM_007294.3(BRCA1):c.4287C>A (p.Tyr1429Ter) rs397509160
NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4484+2T>C rs1555582520
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4677_5075del
NM_007294.3(BRCA1):c.4678_4679del (p.Gly1560fs) rs1555581104
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278
NM_007294.3(BRCA1):c.4704C>T (p.Ile1568=) rs886037793
NM_007294.3(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.3(BRCA1):c.4712del (p.Phe1571fs) rs886037790
NM_007294.3(BRCA1):c.4755del (p.Glu1586fs) rs886037789
NM_007294.3(BRCA1):c.4787C>T (p.Ser1596Leu) rs80357429
NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.3(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.5006C>T (p.Ala1669Val) rs1057518640
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.3(BRCA1):c.519del (p.Gln174fs) rs886037784
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.541G>T (p.Glu181Ter) rs1131692162
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5463_5464insT (p.His1822fs) rs1057518636
NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) rs80357973
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776
NM_007294.3(BRCA1):c.5562del (p.Ile1855fs) rs886037795
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.744C>G (p.Thr248=) rs886037791
NM_007294.3(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer) rs1555599208
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_007294.3(BRCA1):c.837T>C (p.His279=) rs775477245
NM_007294.3(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
Single allele

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