ClinVar Miner

List of variants reported as likely pathogenic by PreventionGenetics,PreventionGenetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.13448380_13597783del
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) rs1561605508
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.3146dup (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000249.3(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.2(RYR1):c.12113dup (p.Met4038fs) rs1568562752
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12624+1G>C rs770054352
NM_000540.2(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13260del (p.Asp4421fs) rs1568583900
NM_000540.2(RYR1):c.13836G>A (p.Trp4612Ter) rs1568593747
NM_000540.2(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14458G>A (p.Gly4820Arg) rs193922873
NM_000540.2(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup) rs1568605049
NM_000540.2(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.2(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.2(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.2(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.2(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.2(RYR1):c.14822T>G (p.Phe4941Cys) rs1568613113
NM_000540.2(RYR1):c.14869-1G>T rs193922897
NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) rs118192160
NM_000540.2(RYR1):c.1993del (p.Glu664_Val665insTer) rs1568451320
NM_000540.2(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.2(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.2(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.2(RYR1):c.3805del (p.Leu1269fs) rs1568469505
NM_000540.2(RYR1):c.4707+1G>A rs1568480914
NM_000540.2(RYR1):c.4789C>T (p.Gln1597Ter) rs1568481364
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.6127+1G>A rs1283302989
NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.2(RYR1):c.6488G>T (p.Arg2163Leu) rs118192163
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6664-2A>G rs1346257891
NM_000540.2(RYR1):c.7373G>T (p.Arg2458Leu) rs121918594
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.7543C>T (p.Gln2515Ter) rs1568503046
NM_000540.2(RYR1):c.8018del (p.His2673fs) rs1568509739
NM_000540.2(RYR1):c.8693-1G>A rs1568514017
NM_000540.2(RYR1):c.9001-2A>G rs774119942
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000540.3(RYR1):c.11314C>T rs763112609
NM_000540.3(RYR1):c.11360-1_11374del rs1568549310
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.273del (p.Phe91fs) rs1559426047
NM_000551.3(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_001002294.3(FMO3):c.132+1G>T rs886038576
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001024688.2(NBN):c.-37_-36del rs786202494
NM_001029835.2(CCM2):c.1297dup (p.Arg433fs) rs1331484727
NM_001029835.2(CCM2):c.232A>T (p.Arg78Ter) rs1562882049
NM_001029835.2(CCM2):c.352-19_415del rs1562907331
NM_001029835.2(CCM2):c.352-1G>A rs1562907365
NM_001029835.2(CCM2):c.361del (p.Gln121fs) rs1204653825
NM_001029835.2(CCM2):c.649del (p.Val217fs) rs1562912441
NM_001029835.2(CCM2):c.672G>A (p.Lys224=) rs1562912528
NM_001029835.2(CCM2):c.853del (p.Glu285fs) rs1562917629
NM_001042723.2(RYR1):c.11305del (p.Ala3769fs) rs768698639
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001128425.1(MUTYH):c.504+19_504+31del rs781222233
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001195573.1(DICER1):c.5365-232_5365-229del rs1595315137
NM_001754.4(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.4(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.4(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.4(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.4(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.4(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.4(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.4(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.4(RUNX1):c.351+1G>C rs1060502579
NM_001754.4(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.4(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.4(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.4(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.4(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004912.4(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs) rs1563266994
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007217.4(PDCD10):c.117del (p.Ala40fs) rs1559960758
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_007217.4(PDCD10):c.150+1G>T rs1553762839
NM_007217.4(PDCD10):c.268+1del rs1559953791
NM_007217.4(PDCD10):c.269-1G>C rs1559952467
NM_007217.4(PDCD10):c.395+1G>A rs1559952220
NM_007217.4(PDCD10):c.395+2T>G rs1559952217
NM_007217.4(PDCD10):c.396-2A>T rs1559945126
NM_007217.4(PDCD10):c.496G>T (p.Glu166Ter) rs1559944602
NM_007217.4(PDCD10):c.501del (p.Phe167fs) rs1559944592
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter) rs1553759059
NM_007217.4(PDCD10):c.558-2A>T rs1553758385
NM_030621.4(DICER1):c.1029dup (p.Phe344fs) rs1555374772
NM_030621.4(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_030621.4(DICER1):c.1355dup (p.Tyr452Ter) rs1595438021
NM_030621.4(DICER1):c.1836del (p.Pro613fs) rs1595406359
NM_030621.4(DICER1):c.1907+1G>A rs1131691217
NM_030621.4(DICER1):c.1908-1G>T rs1595397289
NM_030621.4(DICER1):c.2281dup (p.Tyr761fs) rs1595382528
NM_030621.4(DICER1):c.2379T>G (p.Tyr793Ter) rs1595382041
NM_030621.4(DICER1):c.2436+1G>T rs1595381795
NM_030621.4(DICER1):c.2606_2607del (p.Pro869fs) rs1595380210
NM_030621.4(DICER1):c.2628C>A (p.Tyr876Ter) rs1406824963
NM_030621.4(DICER1):c.2650+1G>A rs886037691
NM_030621.4(DICER1):c.2651-1G>C rs1595379448
NM_030621.4(DICER1):c.2767A>T (p.Lys923Ter) rs1357513890
NM_030621.4(DICER1):c.2988-2A>G rs1595372950
NM_030621.4(DICER1):c.3071G>A (p.Trp1024Ter) rs751053813
NM_030621.4(DICER1):c.3269+1G>A rs1595370466
NM_030621.4(DICER1):c.3293G>A (p.Trp1098Ter) rs1595367992
NM_030621.4(DICER1):c.3665dup (p.Leu1222fs) rs1595365532
NM_030621.4(DICER1):c.3675C>A (p.Tyr1225Ter) rs184830847
NM_030621.4(DICER1):c.3737del (p.Asn1246fs) rs1595365114
NM_030621.4(DICER1):c.3957dup (p.Asp1320fs) rs1566766788
NM_030621.4(DICER1):c.3988del (p.Tyr1330fs) rs1595363945
NM_030621.4(DICER1):c.4005C>A (p.Tyr1335Ter) rs755357184
NM_030621.4(DICER1):c.4050+1G>A rs875989783
NM_030621.4(DICER1):c.4051-1G>A rs1595354013
NM_030621.4(DICER1):c.4140G>A (p.Trp1380Ter) rs1131691205
NM_030621.4(DICER1):c.4206+1G>T rs765059994
NM_030621.4(DICER1):c.438+1G>A rs1595462667
NM_030621.4(DICER1):c.4442G>A (p.Trp1481Ter) rs1595341418
NM_030621.4(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_030621.4(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_030621.4(DICER1):c.4654C>T (p.Gln1552Ter) rs1131691208
NM_030621.4(DICER1):c.4956_4959del (p.His1652fs) rs1595338209
NM_030621.4(DICER1):c.5095+1G>A rs886037722
NM_030621.4(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_030621.4(DICER1):c.714_717del (p.Asp239fs) rs1595456687
NM_030621.4(DICER1):c.727_730del (p.Leu243fs) rs1595456594
NM_030621.4(DICER1):c.809_812dup (p.Met272fs) rs1595448006
NM_030621.4(DICER1):c.869C>A (p.Ser290Ter) rs1595447658
NM_031443.3(CCM2):c.30+1G>A rs1562848479
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.134_135del (p.Val45fs) rs1562881980
NM_031443.4(CCM2):c.79_80del (p.Lys26_Ser27insTer) rs1562881859
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032638.5(GATA2):c.1018-2A>C rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1144-1G>C rs1576744604
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) rs1576744575
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly) rs1576744529
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) rs1576749014
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs) rs1576748609
NM_032638.5(GATA2):c.655dup (p.Glu219fs) rs1576748582
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.844C>T (p.Gln282Ter) rs1576748357
NM_032638.5(GATA2):c.890del (p.Asn297fs) rs1576746931
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_145859.1(PDCD10):c.269_270delAG rs1559952461
NM_177438.2(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.3(DICER1):c.4405_4406del (p.Leu1469fs) rs1064795904
NM_177438.3(DICER1):c.5013_5017del (p.Lys1671fs) rs1595337717
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194456.1(KRIT1):c.1031del (p.Gly344fs) rs1563279045
NM_194456.1(KRIT1):c.1114C>T (p.Gln372Ter) rs780114710
NM_194456.1(KRIT1):c.1146+1G>C rs886039401
NM_194456.1(KRIT1):c.1237del (p.Glu413fs) rs1563275284
NM_194456.1(KRIT1):c.1355_1359del (p.Arg452fs) rs1563266256
NM_194456.1(KRIT1):c.1358dup (p.Ser454fs) rs1563266277
NM_194456.1(KRIT1):c.1372C>T (p.Gln458Ter) rs1563266163
NM_194456.1(KRIT1):c.1406dup (p.Asn469fs) rs1563265838
NM_194456.1(KRIT1):c.1412-2A>C rs1563264113
NM_194456.1(KRIT1):c.141_145del (p.Arg49fs) rs770594592
NM_194456.1(KRIT1):c.1421_1422dup (p.Lys475fs) rs1563264033
NM_194456.1(KRIT1):c.1470dup (p.Leu491fs) rs1563263604
NM_194456.1(KRIT1):c.1477G>T (p.Glu493Ter) rs1563263545
NM_194456.1(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194456.1(KRIT1):c.1616T>A (p.Leu539Ter) rs1563245596
NM_194456.1(KRIT1):c.1666del (p.Ser556fs) rs1563245191
NM_194456.1(KRIT1):c.1730+3A>C rs1563244629
NM_194456.1(KRIT1):c.1739del (p.Asn580fs) rs1563243016
NM_194456.1(KRIT1):c.1754dup (p.Pro586fs) rs1563242899
NM_194456.1(KRIT1):c.1897_1903del (p.Pro633fs) rs1563240821
NM_194456.1(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194456.1(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194456.1(KRIT1):c.2025+2T>C rs1563239833
NM_194456.1(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194456.1(KRIT1):c.2083dup (p.Thr695fs) rs1563211839
NM_194456.1(KRIT1):c.2139del (p.Lys713fs) rs1563211361
NM_194456.1(KRIT1):c.2143-1G>C rs1554489785
NM_194456.1(KRIT1):c.249_250dup (p.Gln84fs) rs1563321624
NM_194456.1(KRIT1):c.363_369del (p.Lys122fs) rs1563309967
NM_194456.1(KRIT1):c.488G>A (p.Trp163Ter) rs1563307254
NM_194456.1(KRIT1):c.587del (p.Ala196fs) rs1563306485
NM_194456.1(KRIT1):c.674del (p.Ala225fs) rs1563305648
NM_194456.1(KRIT1):c.707C>G (p.Ser236Ter) rs1563305269
NM_194456.1(KRIT1):c.729+1G>A rs1563305064
NM_194456.1(KRIT1):c.730-1G>C rs1554527922
NM_194456.1(KRIT1):c.790_794del (p.Gln264fs) rs1563303222
NM_194456.1(KRIT1):c.845+2T>A rs1563302930
NM_194456.1(KRIT1):c.850C>T (p.Arg284Ter) rs374662170
NM_194456.1(KRIT1):c.947_948insAC (p.Leu317fs) rs1563301527
NM_194456.1(KRIT1):c.972del (p.Ile325fs) rs1563301305

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.