ClinVar Miner

List of variants studied for breast disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) rs761032954 0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys) rs587782279 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val) rs587779832 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000059.4(BRCA2):c.6235del (p.Val2079fs) rs397507835 0.00001
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys) rs786202615 0.00001
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys) rs786202520 0.00001
NM_000465.4(BARD1):c.2057A>G (p.His686Arg) rs864622380 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu) rs551872656
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.492G>T (p.Trp164Cys) rs1555059530
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg) rs786203332
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.1805del (p.Gly602fs) rs397507608
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer) rs80359369
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) rs397507305
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr) rs80358761
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5807del (p.Met1936fs) rs1555284404
NM_000059.4(BRCA2):c.6269del (p.His2090fs) rs1375058950
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs) rs2072386817
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7951A>G (p.Arg2651Gly) rs1555286865
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg) rs730881564
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs) rs886038184
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
NM_000059.4(BRCA2):c.9685C>T (p.Pro3229Ser) rs1064793542
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9919A>G (p.Lys3307Glu)
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu) rs1057520473
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val) rs754225520
NM_000251.3(MSH2):c.1661+3T>G rs1064793688
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.3(MSH2):c.942+14_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) rs748780206
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) rs1839125790
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) rs777013688
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala) rs1694983227
NM_000535.7(PMS2):c.2109G>C (p.Thr703=) rs775355718
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr) rs779625900
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) rs199925463
NM_004360.5(CDH1):c.1073C>G (p.Thr358Arg) rs1191901557
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln) rs587780115
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg) rs587781335
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) rs786202339
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs) rs2053942986
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro) rs1296957097
NM_007194.4(CHEK2):c.909-49_1095+51del
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) rs587780192
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter) rs80357046
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer) rs1555588016
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_024675.4(PALB2):c.1126del (p.Ser376fs) rs2142425187
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp) rs730881883
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_032043.2(BRIP1):c.1474-7C>A rs886041146
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val) rs778992385
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro) rs876660191
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs) rs2077534283
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu) rs876660074
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.403del (p.Ala135fs) rs2078781062
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_177438.3(DICER1):c.1376+6del rs1893183218

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