ClinVar Miner

List of variants in gene BRCA1 reported by Michigan Medical Genetics Laboratories,University of Michigan

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Gene type:
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Total variants: 114
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HGVS dbSNP
NM_007294.3(BRCA1):c.-19-22_-19-21dupAT rs273898667
NM_007294.3(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.3(BRCA1):c.1043G>A (p.Cys348Tyr) rs752198747
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1390A>G (p.Thr464Ala) rs869320787
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.3(BRCA1):c.1843_1845TCT[1] (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) rs80357516
NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) rs869320788
NM_007294.3(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.2192_2196del (p.Lys731fs) rs397508946
NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter) rs80357444
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.3(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.3(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3462dup (p.Asp1155fs) rs80357857
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3774G>A (p.Glu1258=) rs431825399
NM_007294.3(BRCA1):c.3944C>G (p.Pro1315Arg) rs80357500
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) rs80357178
NM_007294.3(BRCA1):c.4097-11T>C rs80358072
NM_007294.3(BRCA1):c.4097-28A>G rs869320777
NM_007294.3(BRCA1):c.4357+1G>A rs80358027
NM_007294.3(BRCA1):c.4358-45A>G rs869320778
NM_007294.3(BRCA1):c.441+18CTT[6] rs147856441
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) rs587780863
NM_007294.3(BRCA1):c.4670A>G (p.Asp1557Gly) rs869320779
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.3(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.3(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5284del (p.Arg1762fs) rs80357684
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.5485G>A (p.Glu1829Lys) rs869320789
NM_007294.3(BRCA1):c.594-34T>C rs147314539
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007297.4(BRCA1):c.300+36_300+49del rs373413425
NM_007298.3(BRCA1):c.787+1461_787+1465del rs397508954
NM_007298.3(BRCA1):c.787+597dup rs80357722
NM_007298.3(BRCA1):c.787+813del rs869320776
NM_007298.3(BRCA1):c.787+99del rs869320786
NM_007299.4(BRCA1):c.*142C>G rs3092995
NM_007299.4(BRCA1):c.1018C>G (p.Arg340Gly) rs41293455
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.1223G>T (p.Ser408Ile) rs1800744
NM_007299.4(BRCA1):c.1644G>A (p.Met548Ile) rs1799967
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007299.4(BRCA1):c.212+23T>A rs8176128
NM_007299.4(BRCA1):c.213-12A>G rs80358163
NM_007299.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007299.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007299.4(BRCA1):c.442-34C>T rs799923
NM_007299.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007299.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007299.4(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007299.4(BRCA1):c.787+1184A>G rs28897679
NM_007299.4(BRCA1):c.787+1295C>T rs1799949
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1524T>C rs16940
NM_007299.4(BRCA1):c.787+1671A>G rs56082113
NM_007299.4(BRCA1):c.787+1779T>C rs80356892
NM_007299.4(BRCA1):c.788-1380G>A rs4986852
NM_007299.4(BRCA1):c.788-899G>C rs56214134
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
NM_007300.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007300.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007300.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007300.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007300.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007300.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007300.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007300.4(BRCA1):c.4946T>C (p.Met1649Thr) rs4986854
NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007300.4(BRCA1):c.693G>A (p.Thr231=) rs62625298

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