ClinVar Miner

List of variants reported as likely benign for Familial cancer of breast by Mendelics

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NC_000022.11:g.28742014G>A rs187164042 0.00100
NM_000465.4(BARD1):c.216-13A>T rs1272210676 0.00086
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.1904-412A>T rs536758903 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_007194.4(CHEK2):c.593-55G>A rs17879915 0.00004
NM_000465.4(BARD1):c.1904-485A>G rs571154441 0.00003
NM_000465.4(BARD1):c.1904-629C>T rs1266026461 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032043.3(BRIP1):c.-95G>A rs892920553 0.00002
NM_000465.4(BARD1):c.1818T>C (p.His606=) rs199590147 0.00001
NM_007194.3(CHEK2):c.-70A>T rs1264820873 0.00001
NM_007194.4(CHEK2):c.1290T>C (p.His430=) rs373864492 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1923A>G (p.Lys641=) rs775283927 0.00001
NM_024675.4(PALB2):c.212-6C>T rs1416424510 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.-225G>A rs1603369188 0.00001
NM_032043.3(BRIP1):c.-56C>G rs1054876315 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576 0.00001
NC_000002.12:g.214809692G>A rs551544754
NM_000465.4(BARD1):c.-107G>T rs1574870750
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1662T>C (p.Ala554=) rs1402521170
NM_000465.4(BARD1):c.1904-626G>T rs1172986637
NM_000465.4(BARD1):c.216-12A>T rs199846428
NM_007194.4(CHEK2):c.319+3851G>T rs1601841500
NM_007194.4(CHEK2):c.319+3980C>T rs1045958480
NM_007194.4(CHEK2):c.444+9T>C rs1437978013
NM_007194.4(CHEK2):c.592+50A>C rs17881298
NM_007194.4(CHEK2):c.593-2089T>C rs1012399282
NM_007194.4(CHEK2):c.593-2151A>T rs1411302770
NM_007194.4(CHEK2):c.593-2162_593-2156dup rs199835095
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951
NM_024675.4(PALB2):c.-23C>T rs1597106322
NM_024675.4(PALB2):c.-66C>T rs1597106467
NM_024675.4(PALB2):c.1089T>C (p.Asp363=) rs1597097155
NM_024675.4(PALB2):c.1685-28T>C rs1597091553
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) rs1597090787
NM_024675.4(PALB2):c.212-50dup rs759760268
NM_024675.4(PALB2):c.212-8C>T rs1387711045
NM_024675.4(PALB2):c.212-9C>T rs1555461884
NM_024675.4(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.49-432A>G rs1597102250
NM_032043.3(BRIP1):c.-165A>G rs1603369145
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=) rs1603332998
NM_032043.3(BRIP1):c.1935+8G>T rs767048212
NM_032043.3(BRIP1):c.2098-8C>T rs917048033
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=) rs1603304559
NM_032043.3(BRIP1):c.2379+7C>T rs1057520464
NM_032043.3(BRIP1):c.2905+31T>C rs1603276473
NM_032043.3(BRIP1):c.380-6T>C rs780921390
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394

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