ClinVar Miner

List of variants reported as pathogenic by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000038.6(APC):c.1490dup (p.Arg498fs) rs1763782834
NM_000038.6(APC):c.1744G>T (p.Glu582Ter) rs1764693751
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2510del (p.Ser836_Ser837insTer) rs1765200218
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter) rs1114167596
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter) rs397507624
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter) rs80358546
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs) rs276174842
NM_000059.4(BRCA2):c.4530del (p.Glu1511fs) rs886040537
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs) rs886040567
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs) rs876660228
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter) rs397507778
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs) rs397507784
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter) rs80358844
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs) rs397507862
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs) rs397507865
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) rs80359613
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs) rs397507885
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter) rs397507910
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter) rs397507937
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs) rs397507952
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs) rs80359691
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter) rs397507965
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) rs276174907
NM_000059.4(BRCA2):c.8423_8427delinsA (p.Leu2808fs) rs2072821453
NM_000059.4(BRCA2):c.8487+2T>G rs886040944
NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter) rs1057517865
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) rs80359144
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter) rs80359199
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter) rs886040852
NM_000077.5(CDKN2A):c.151-1G>A rs730881677
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg) rs1057519881
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs) rs63750075
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000249.4(MLH1):c.1003del (p.Leu335fs) rs2082990862
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000546.6(TP53):c.825T>A (p.Cys275Ter) rs1555525279
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter) rs2067091604
NM_001042492.3(NF1):c.598A>T (p.Lys200Ter) rs2066130986
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1435-2A>T rs1553123105
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004656.4(BAP1):c.67+2T>C rs1705305535
NM_004656.4(BAP1):c.898_899del (p.Arg300fs) rs1578224341
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter) rs80357068
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.181T>A (p.Cys61Ser) rs28897672
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs) rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) rs80357377
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3629_3630del (p.Glu1210fs) rs80357589
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter) rs747539984
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs) rs397509185
NM_007294.4(BRCA1):c.4676-2A>G rs80358096
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5152+1G>A rs80358094
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter) rs397509274
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_058216.3(RAD51C):c.572-1G>C rs1413872299

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