ClinVar Miner

List of variants reported as likely pathogenic by Color

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 381
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HGVS dbSNP
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-2A>T rs1064794163
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.1899-1G>A rs1555073065
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2376+1G>A rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2467-2A>G rs1555082050
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.3402+1G>C rs1565439606
NM_000051.3(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>C rs587782276
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4611+1delG rs1565461824
NM_000051.3(ATM):c.4612-3_4616delTAGGTATT rs773012957
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.4910-2A>T rs1555103156
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5674+1G>T rs1565482453
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7928-2A>G rs864622610
NM_000051.3(ATM):c.8010+1delG rs876659350
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8152-2A>G rs777602049
NM_000051.3(ATM):c.8269-1G>C rs1565557607
NM_000051.3(ATM):c.8419-1G>C rs1555137920
NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) rs587782202
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.901+2T>C rs1218815157
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1910-1G>T rs1566225769
NM_000059.3(BRCA2):c.316+1G>A rs397507303
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.475+1G>T rs81002797
NM_000059.3(BRCA2):c.475+4delT rs276174848
NM_000059.3(BRCA2):c.476-1G>A rs397507340
NM_000059.3(BRCA2):c.681+2dupT rs587781486
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7008-1G>A rs786204280
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7976+2C>G rs886040943
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976+5G>T rs786201180
NM_000059.3(BRCA2):c.7977-1G>T rs81002874
NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8331+2T>C rs398122602
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8632+1G>A rs397507997
NM_000059.3(BRCA2):c.8633-24_8634del rs886040945
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8953+1G>A rs81002882
NM_000059.3(BRCA2):c.9256+2T>C rs1555288591
NM_000059.3(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.3(BRCA2):c.9850_9866del (p.Ser3284fs) rs1566261091
NM_000077.4(CDKN2A):c.-16_8GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000077.4(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3798_3801+9delTATGGTATGTGCA rs1553333168
NM_000179.2(MSH6):c.3802-7_3802-4delTCTT rs876661171
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4002-2A>G rs878853745
NM_000179.2(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000238.3(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1668-2A>C rs1559578422
NM_000249.3(MLH1):c.1990-1G>C rs267607884
NM_000249.3(MLH1):c.1A>C (p.Met1Leu) rs587778967
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884+1G>A rs1553646764
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1510+2_1510+50del rs1558508399
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.646-3T>G rs267607930
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000455.4(STK11):c.980_981AC[1] (p.Thr328fs)
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs) rs1559372682
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.4(LDLR):c.244_246del (p.Cys82del) rs1568591929
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.694+1G>A rs879254646
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000546.5(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.672+1G>T rs863224499
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_001128425.1(MUTYH):c.1186+1G>T rs587781337
NM_001128425.1(MUTYH):c.1476_1476+6delGGCACTA rs864621967
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.504+19_504+31delTAGGGGAAATAGG rs781222233
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln) rs1060501346
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_002485.4(NBN):c.1125-2A>G rs1554559373
NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA rs876659666
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.320+2T>G rs1563580433
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.7A>T (p.Lys3Ter) rs779098734
NM_002485.4(NBN):c.896+1G>A rs778306619
NM_002485.4(NBN):c.896+1G>T rs778306619
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) rs750219200
NM_002878.3(RAD51D):c.82+1G>T rs786202788
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_004329.2(BMPR1A):c.676-1G>A rs1554890734
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004656.4(BAP1):c.255+1G>A rs1060503750
NM_004656.4(BAP1):c.783+2T>C rs774730309
NM_004656.4(BAP1):c.784-2A>T rs1559589344
NM_005359.5(SMAD4):c.787+1G>A rs1568206107
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.135-1G>A rs80358158
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.302-2A>G rs80358011
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5075-2del rs886040913
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5152+2T>C rs886040914
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5278-2A>T rs397509253
NM_007294.3(BRCA1):c.5332+1G>T rs80358041
NM_007294.3(BRCA1):c.5333-2A>T rs397509264
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-2A>G rs397509326
NM_007294.3(BRCA1):c.81-5_81-1delinsACCTTGA rs1555599292
NM_024675.3(PALB2):c.108+1G>A rs1060499814
NM_024675.3(PALB2):c.1685-1G>A rs1057520645
NM_024675.3(PALB2):c.211+1G>A rs1555462026
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2515-1G>C rs587776417
NM_024675.3(PALB2):c.2748+1G>A rs753153576
NM_024675.3(PALB2):c.2749-1G>T rs1060502804
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3350+2C>G rs1555458171
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.48+1G>A rs515726118
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2575+2dup rs1555574711
NM_032043.2(BRIP1):c.2999_3002del (p.Val1000fs) rs1567729445
NM_032043.2(BRIP1):c.379+1G>A rs1437158047
NM_032043.2(BRIP1):c.380-2A>G rs1567868785
NM_032043.2(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2A>C rs779582317
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867

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