ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely benign" from Genetic Services Laboratory,University of Chicago

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 416
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HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_078470.6(COX15):c.*1126T>C rs2231687 0.84288
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81576
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.78613
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.73859
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69756
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68227
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.67137
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66821
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64983
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.63160
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63041
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60864
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.56447
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.51172
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.42862
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40886
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29750
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.27830
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24611
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.24261
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19058
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17648
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15800
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12475
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.11514
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.09781
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.09409
NM_001267550.2(TTN):c.68217T>C (p.His22739_Pro22740=) rs10497517 0.08393
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07631
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07422
NM_001267550.2(TTN):c.42783A>G (p.Lys14261_Trp14262=) rs16866425 0.07162
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.06939
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.06866
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06865
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.06165
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.05099
NM_001267550.2(TTN):c.22080T>C (p.Asp7360_Thr7361=) rs16866473 0.05020
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.04594
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.04367
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03477
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02667
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02545
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001267550.2(TTN):c.52917T>C (p.Asp17639_Tyr17640=) rs73036398 0.02352
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001267550.2(TTN):c.86811A>G (p.Val28937_Lys28938=) rs55972010 0.02220
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02212
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02100
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02054
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02021
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303_Leu8304=) rs72648983 0.01872
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_001267550.2(TTN):c.22611T>C (p.His7537_Val7538=) rs16866469 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01751
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01570
NM_001267550.2(TTN):c.92901C>T (p.Ser30967_Leu30968=) rs11694623 0.01535
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01368
NM_001267550.2(TTN):c.18390A>T (p.Thr6130_Gly6131=) rs66523653 0.01328
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001267550.2(TTN):c.23001G>A (p.Thr7667_Ile7668=) rs16866467 0.01263
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01234
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01217
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01163
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001267550.2(TTN):c.47400G>A (p.Lys15800_Thr15801=) rs114145817 0.01143
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01137
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00838
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843_Tyr18844=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00672
NM_001267550.2(TTN):c.95259C>T (p.Leu31753_Asn31754=) rs72648258 0.00667
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001267550.2(TTN):c.64032C>T (p.Asn21344_Glu21345=) rs72646857 0.00644
NM_001267550.2(TTN):c.19383T>C (p.Asn6461_Asp6462=) rs76771282 0.00636
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00624
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00623
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00586
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00564
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_001267550.2(TTN):c.29178C>A (p.Ile9726_Pro9727=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00526
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_001267550.2(TTN):c.33063A>G (p.Glu11021_Arg11022=) rs115744476 0.00508
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_174936.4(PCSK9):c.1431C>T (p.Cys477_Ala478=) rs28362268 0.00417
NM_001267550.2(TTN):c.72132T>C (p.Gly24044_Glu24045=) rs56169243 0.00400
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00395
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001267550.2(TTN):c.70815G>A (p.Val23605_Met23606=) rs55847238 0.00347
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00328
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001267550.2(TTN):c.41103C>T (p.Gly13701_Ser13702=) rs72650077 0.00274
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00265
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00255
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_174936.4(PCSK9):c.1395G>A (p.Ser465_Gly466=) rs146960060 0.00249
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00239
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00210
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00201
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00201
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00198
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00188
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00178
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00175
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574_Asp25575=) rs55696153 0.00172
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00169
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00162
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00121
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_001267550.2(TTN):c.94846C>T (p.Leu31616_Asp31617=) rs72648255 0.00117
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00112
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00108
NM_001267550.2(TTN):c.80322C>T (p.Ala26774_Val26775=) rs55892928 0.00108
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00106
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00086
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00086
NM_020975.6(RET):c.1197G>A (p.Pro399_Val400=) rs148371113 0.00086
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001267550.2(TTN):c.75738A>G (p.Glu25246_Thr25247=) rs371344165 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001267550.2(TTN):c.106578T>A (p.Ser35526_Glu35527=) rs55838839 0.00071
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00067
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00064
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00062
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00061
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00061
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664_Val1665=) rs142459158 0.00057
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00054
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00045
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00041
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00041
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00041
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00041
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00038
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00035
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00029
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00029
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00025
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00025
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00022
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00022
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00022
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00022
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00013
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00010
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00010
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00010
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00006
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731 0.00006
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00006
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00006
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00003
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00003
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00003
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00003
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00003
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00003
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00003
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.91071T>G (p.Thr30357_Gly30358=) rs11897366
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234

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