ClinVar Miner

List of variants reported as likely pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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ClinVar version:
Total variants: 206
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HGVS dbSNP
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) rs863225336
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) rs863225339
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) rs863225342
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
NM_000157.4(GBA):c.701G>A (p.Gly234Glu) rs74462743
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
NM_000179.2(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.2(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.2(MSH6):c.260+2T>A rs1553408469
NM_000179.2(MSH6):c.260+3A>G rs1553408474
NM_000179.2(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.2(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3714_3715TA[1] (p.Ile1239fs) rs1064794384
NM_000179.2(MSH6):c.3797_3798AT[1] (p.Met1267fs) rs267608114
NM_000179.2(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000249.3(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.3(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.3(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.3(MLH1):c.1860dup (p.Met621fs) rs863225380
NM_000249.3(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000251.2(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.2(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.2(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.2(MSH2):c.2005+2dupT rs541623924
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.524_525TG[2] (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000314.7(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.7(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.7(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000382.3(ALDH3A2):c.1293_1294GA[2] (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs) rs1555534430
NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs) rs1555534434
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000466.3(PEX1):c.2724dup (p.Glu909fs) rs1554369227
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000546.5(TP53):c.116_117del (p.Ala39fs) rs1555526793
NM_000546.5(TP53):c.400_401insG (p.Phe134fs) rs1555526286
NM_000546.5(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.5(TP53):c.469_476del (p.Val157fs) rs1555526137
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.5(TP53):c.970del (p.Asp324fs) rs1555524970
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_001005273.2(CHD3):c.3603_3614del (p.Met1202_Thr1205del) rs1555612691
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) rs73095427
NM_001029882.3(AHDC1):c.3168_3169del rs1553158517
NM_001040108.1(MLH3):c.3154del (p.Leu1052fs) rs745657036
NM_001040108.1(MLH3):c.3643+2T>C rs1555343301
NM_001040436.3(YARS2):c.201dup (p.Gly68fs) rs1555137047
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001145155.2(NR2F2):c.44-1888_44-1887dup rs1555446983
NM_001193466.2(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001320.6(CSNK2B):c.181G>T (p.Glu61Ter) rs1562050885
NM_001320.6(CSNK2B):c.2T>A (p.Met1Lys) rs1562045237
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro) rs1553387422
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter) rs863224234
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004563.4(PCK2):c.451_452dup (p.Met152fs) rs1555341463
NM_004563.4(PCK2):c.457del (p.Gln153fs) rs1555341473
NM_004563.4(PCK2):c.459_460insA (p.Gly154fs) rs1555341483
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005359.5(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) rs1060500739
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006306.3(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) rs1554121453
NM_014727.2(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_017837.3(PIGV):c.55C>T (p.Arg19Cys) rs759988046
NM_017890.4(VPS13B):c.4846C>T (p.Arg1616Ter) rs752429062
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_020549.4(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_021964.2(ZNF148):c.2332_2333AG[1] (p.Arg778fs) rs1553802038
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) rs1555744039
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_178152.3(DCX):c.809-1G>A rs587783589

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