ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System and "benign" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 305
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000179.3(MSH6):c.3556+146G>A rs7562048 0.54192
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_005612.5(REST):c.2443C>T (p.Pro815Ser) rs114282228 0.01389
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_001510.4(GRID2):c.1203T>C (p.Leu401=) rs80091080 0.00850
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro) rs61729823 0.00443
NM_007027.4(TOPBP1):c.3371+9C>T rs138529143 0.00411
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674 0.00373
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_198407.2(GHSR):c.531C>A (p.Pro177=) rs4988509 0.00334
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_001349253.2(SCN11A):c.601A>T (p.Ile201Phe) rs139915721 0.00249
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00186
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_002253.4(KDR):c.1384T>G (p.Leu462Val) rs56286620 0.00175
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445 0.00173
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_001368894.2(PAX6):c.141+55G>A rs571151963 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn) rs148498977 0.00092
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=) rs138155461 0.00085
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn) rs139368531 0.00061
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys) rs141036904 0.00058
NM_000349.3(STAR):c.179-14G>A rs117578796 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His) rs200738532 0.00053
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001395656.1(ROBO2):c.3267G>A (p.Thr1089=) rs200783298 0.00047
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) rs140628687 0.00047
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu) rs138266625 0.00042
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) rs61745409 0.00035
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) rs144607594 0.00028
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile) rs139167350 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000249.4(MLH1):c.2001C>T (p.Asp667=) rs63750014 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_002439.5(MSH3):c.169G>C (p.Ala57Pro) rs144776112 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg) rs201585283 0.00006
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln) rs144407969 0.00005
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_004974.4(KCNA2):c.972C>T (p.Ser324=) rs765820644 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly) rs530739140 0.00002
NM_170601.5(SIAE):c.886C>T (p.Leu296Phe) rs200609324 0.00002
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln) rs373569904 0.00002
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_007294.4(BRCA1):c.1227A>G (p.Val409=) rs149349675 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His) rs371324331 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001127381.1(PPP2R2B):c.-183_-181GCA[4] rs10591869
NM_001142459.2(ASB10):c.731G>A (p.Arg244His) rs104886476
NM_001190274.2(FBXO11):c.924G>C (p.Met308Ile) rs1219431687
NM_002470.4(MYH3):c.5254G>T (p.Ala1752Ser) rs34393601
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg) rs149022037
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) rs114752661
NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) rs144229833
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met) rs149295542
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=) rs368560676
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_033343.4(LHX4):c.724_726del (p.Lys242del) rs771109452
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_194248.3(OTOF):c.2287G>A (p.Val763Ile) rs138545671
NM_212482.4(FN1):c.6853+12C>G rs111303746
Single allele

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