ClinVar Miner

Variants with conflicting interpretations "benign" from Mayo Clinic Laboratories, Mayo Clinic and "likely benign" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 439
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06611
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05399
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_182760.4(SUMF1):c.445-22T>C rs711634 0.03328
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_002055.5(GFAP):c.*16G>A rs113487550 0.02451
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000038.6(APC):c.220+124C>G rs76552546 0.01839
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507 0.01790
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_003630.3(PEX3):c.523+25A>G rs13203340 0.01751
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000251.3(MSH2):c.1386+104C>T rs17224444 0.01603
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_080916.3(DGUOK):c.423G>A (p.Glu141=) rs1804599 0.01535
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_002778.4(PSAP):c.1006-21C>T rs56214505 0.01471
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_000249.4(MLH1):c.1039-27T>A rs9862158 0.01307
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001386393.1(PANK2):c.298+24C>A rs201038465 0.01080
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) rs45598734 0.01040
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_022089.4(ATP13A2):c.2762+29G>A rs141447403 0.01020
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923 0.01007
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000038.6(APC):c.1627-93A>C rs115157960 0.00999
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_000249.4(MLH1):c.1039-26T>A rs1360955428 0.00920
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489 0.00908
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_000391.4(TPP1):c.509-25C>T rs116069009 0.00892
NM_000391.4(TPP1):c.1266+28G>A rs115795247 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000391.4(TPP1):c.1146-24C>A rs13377445 0.00888
NM_000038.6(APC):c.422+75T>C rs112114081 0.00876
NM_000289.6(PFKM):c.747+24T>G rs149600978 0.00875
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676 0.00757
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_002979.5(SCP2):c.1224G>A (p.Pro408=) rs80253221 0.00680
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_004937.3(CTNS):c.853-28C>T rs78671385 0.00563
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001386393.1(PANK2):c.905+22C>T rs71647841 0.00446
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_000038.6(APC):c.729+23T>C rs75111475 0.00381
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_139242.4(MTFMT):c.186G>C (p.Ala62=) rs183891284 0.00256
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_002979.5(SCP2):c.1468+17C>A rs79342751 0.00163
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000512.5(GALNS):c.633+22T>C rs201579340 0.00045
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000414.4(HSD17B4):c.1437+25A>C rs181609312 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000314.8(PTEN):c.-546GGC[6] rs34413673
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001080449.3(DNA2):c.720-15dup rs34191745
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001278716.2(FBXL4):c.1103+30del rs377101732
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001931.5(DLAT):c.381+22dup rs5794771
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_018122.5(DARS2):c.128-6_128-5dup rs746151025
NM_018122.5(DARS2):c.128-7_128-5dup rs746151025
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018122.5(DARS2):c.228-20del rs143246542
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_024312.5(GNPTAB):c.323+11dup rs546617430

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