ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by Mendelics

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251 0.00029
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00020
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359 0.00013
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 0.00003
NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile) rs80358462 0.00003
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys) rs80358741 0.00003
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) rs587782714 0.00003
NM_000059.4(BRCA2):c.9078G>C (p.Gln3026His) rs1359207910 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val) rs80359244 0.00003
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) rs397507603 0.00002
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00002
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala) rs80358500 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly) rs80358732 0.00002
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly) rs80358839 0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His) rs876659550 0.00001
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp) rs765279896 0.00001
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His) rs750667529 0.00001
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile) rs397507287 0.00001
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg) rs760792501 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val) rs80358554 0.00001
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg) rs80358569 0.00001
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu) rs80358616 0.00001
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser) rs431825318 0.00001
NM_000059.4(BRCA2):c.449A>G (p.His150Arg) rs397507722 0.00001
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile) rs786202354 0.00001
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn) rs80358744 0.00001
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg) rs1183489363 0.00001
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp) rs1192019733 0.00001
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) rs587781536 0.00001
NM_000059.4(BRCA2):c.562G>A (p.Val188Met) rs1555281063 0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 0.00001
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly) rs1566234469 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala) rs80358926 0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973 0.00001
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn) rs549269828 0.00001
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile) rs80358990 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp) rs431825360 0.00001
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val) rs770479195 0.00001
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr) rs80359060 0.00001
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val) rs80359103 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala) rs587782021 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr) rs747073940 0.00001
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323 0.00001
NM_000059.4(BRCA2):c.10091_10092del (p.Ser3364fs) rs80359257
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp) rs1064793835
NM_000059.4(BRCA2):c.10248dup (p.Tyr3417fs) rs776212316
NM_000059.4(BRCA2):c.103C>T (p.Leu35Phe) rs1446479156
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu) rs80358411
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser) rs80358414
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala) rs1566223650
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) rs80358437
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) rs587782713
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu) rs587782713
NM_000059.4(BRCA2):c.1953T>G (p.Asp651Glu) rs771442178
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val) rs1555282420
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His) rs80358499
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile) rs1239876081
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.247G>C (p.Glu83Gln) rs886040428
NM_000059.4(BRCA2):c.2560A>G (p.Asn854Asp) rs1413706911
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala) rs1566226964
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val) rs397507294
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu) rs1555282999
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser) rs778281493
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg) rs80358562
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His) rs397507306
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg) rs886037814
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys) rs878853575
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly) rs80358627
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp) rs587782645
NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp) rs1593901487
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu) rs876661198
NM_000059.4(BRCA2):c.4265A>T (p.Glu1422Val) rs1593901855
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val) rs778282885
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys) rs876659847
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg) rs1555283790
NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser) rs2072509102
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) rs786204239
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile) rs890665355
NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr) rs587781599
NM_000059.4(BRCA2):c.5015A>G (p.Tyr1672Cys) rs2072518272
NM_000059.4(BRCA2):c.5059_5062del (p.Leu1687fs) rs1281993806
NM_000059.4(BRCA2):c.5068_5073dup (p.Lys1690_Lys1691dup) rs80359479
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu) rs886037802
NM_000059.4(BRCA2):c.5467A>G (p.Lys1823Glu) rs276174858
NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile) rs879255459
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.556G>C (p.Ala186Pro) rs1217007370
NM_000059.4(BRCA2):c.561G>C (p.Glu187Asp) rs754678843
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly) rs398122536
NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr) rs1555281067
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser) rs786203948
NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val) rs730881539
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser) rs276174863
NM_000059.4(BRCA2):c.5791C>A (p.Gln1931Lys) rs80358807
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del) rs1026127409
NM_000059.4(BRCA2):c.589T>C (p.Ser197Pro) rs730881505
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser) rs398122549
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp) rs1555284596
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala) rs1593907983
NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn) rs1060502389
NM_000059.4(BRCA2):c.6322C>A (p.Arg2108Ser) rs55794205
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.643G>A (p.Glu215Lys) rs774539540
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn) rs80358885
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.670G>A (p.Asp224Asn) rs876660484
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys) rs876659031
NM_000059.4(BRCA2):c.68-5A>T rs1555280326
NM_000059.4(BRCA2):c.6888A>G (p.Ile2296Met) rs879255335
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val) rs876661032
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.7093C>T (p.His2365Tyr) rs876659943
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn) rs398122575
NM_000059.4(BRCA2):c.7127C>T (p.Ala2376Val) rs1593917850
NM_000059.4(BRCA2):c.7170T>A (p.Asn2390Lys) rs1555286027
NM_000059.4(BRCA2):c.71_72insTTTTTTT (p.Leu24fs) rs397507903
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro) rs876659118
NM_000059.4(BRCA2):c.7246T>G (p.Phe2416Val) rs2072681002
NM_000059.4(BRCA2):c.7298A>G (p.Gln2433Arg) rs1593918295
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys) rs80358976
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys) rs1566242642
NM_000059.4(BRCA2):c.7903G>A (p.Glu2635Lys) rs2137577279
NM_000059.4(BRCA2):c.7977-7C>T rs397507948
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr) rs80359040
NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu) rs397507966
NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg) rs768247528
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val) rs80359098
NM_000059.4(BRCA2):c.8487+5G>C rs1566248993
NM_000059.4(BRCA2):c.8582_8584dup (p.Arg2861dup) rs1593931201
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup) rs730881616
NM_000059.4(BRCA2):c.8632+3_8632+4insT rs2137601235
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val) rs1310128359
NM_000059.4(BRCA2):c.8754+9G>A rs749435255
NM_000059.4(BRCA2):c.8755-11A>G rs1371032020
NM_000059.4(BRCA2):c.8755G>T (p.Gly2919Cys) rs1454684155
NM_000059.4(BRCA2):c.8869C>A (p.Gln2957Lys) rs276174913
NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val) rs2137620740
NM_000059.4(BRCA2):c.9109C>A (p.Gln3037Lys) rs397508037
NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu) rs80359179
NM_000059.4(BRCA2):c.9265C>T (p.Pro3089Ser) rs1593199583
NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg) rs956554593
NM_000059.4(BRCA2):c.9337A>G (p.Ile3113Val) rs1566258935
NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu) rs397508057
NM_000059.4(BRCA2):c.9510C>G (p.Asp3170Glu) rs876661072
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile) rs1566222487
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val) rs730881574
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs) rs431825381

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