ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genetic Services Laboratory, University of Chicago and "uncertain significance" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 847
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974 0.00512
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) rs2307293 0.00496
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala) rs75160992 0.00321
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys) rs78564552 0.00266
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp) rs199954296 0.00249
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_020921.4(NIN):c.2987C>T (p.Ala996Val) rs41313507 0.00235
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) rs200992550 0.00230
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln) rs76349207 0.00215
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr) rs76249824 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001012339.3(DNAJC21):c.316-8T>G rs182094106 0.00193
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser) rs143001503 0.00153
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) rs117632905 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) rs148976893 0.00136
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val) rs148633216 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) rs149359927 0.00091
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) rs145583732 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) rs147127279 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser) rs142123958 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) rs142338976 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_031466.8(TRAPPC9):c.-11+6C>T rs376367358 0.00066
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_003108.4(SOX11):c.709C>G (p.Leu237Val) rs140772793 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_138711.6(PPARG):c.348T>C (p.Ala116=) rs147975759 0.00056
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236 0.00055
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_000349.3(STAR):c.177C>T (p.Leu59=) rs142910480 0.00052
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_001113525.2(ZNF276):c.*470A>C rs372268907 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) rs61749475 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro) rs146025130 0.00046
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00046
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn) rs148403790 0.00042
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln) rs184369322 0.00042
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_002519.3(NPAT):c.2548A>G (p.Ile850Val) rs140098074 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=) rs145607512 0.00038
NM_002519.3(NPAT):c.1232A>T (p.Glu411Val) rs201010866 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) rs145918825 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00031
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453 0.00030
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) rs146075543 0.00027
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val) rs200845575 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) rs147629352 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val) rs34238319 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val) rs150534917 0.00022
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00022
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001184.4(ATR):c.483A>G (p.Arg161=) rs182268224 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met) rs201780608 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) rs113208348 0.00020
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys) rs760492866 0.00020
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=) rs140408680 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr) rs377114410 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 0.00014
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030 0.00014
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004933.3(CDH15):c.107G>A (p.Arg36Gln) rs367770505 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln) rs45444592 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) rs140416280 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) rs145476120 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001267550.2(TTN):c.16581C>T (p.Val5527=) rs373179717 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_002691.4(POLD1):c.2100A>G (p.Val700=) rs772468675 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys) rs144957238 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp) rs376877146 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061 0.00007
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001374828.1(ARID1B):c.2142G>A (p.Met714Ile) rs142897795 0.00006
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 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_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966 0.00005
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn) rs201991593 0.00005
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp) rs961911715 0.00005
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002691.4(POLD1):c.2250+7G>A rs775363857 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg) rs1282824691 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_004360.5(CDH1):c.688-4T>C rs781633588 0.00003
NM_004523.4(KIF11):c.2106G>T (p.Lys702Asn) rs189734472 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_020975.6(RET):c.31C>A (p.Leu11Met) rs587780812 0.00003
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) rs777334819 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047 0.00002
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=) rs920135778 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys) rs539740208 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_004991.4(MECOM):c.3446A>G (p.His1149Arg) rs779967808 0.00002
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036 0.00002
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile) rs587780389 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000142.5(FGFR3):c.1645+4G>C rs1367336734 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys) rs201084834 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu) rs1464985103 0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser) rs797045273 0.00001
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln) rs774840535 0.00001
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018 0.00001
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile) rs797045532 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu) rs587784504 0.00001
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) rs587784395 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro) rs730881197 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017831.4(RNF125):c.122T>C (p.Leu41Pro) rs979916916 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=) rs993057859 0.00001
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) rs372276373 0.00001
NM_020699.4(GATAD2B):c.900G>A (p.Pro300=) rs376882053 0.00001
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter) rs1428157543 0.00001
NM_020937.4(FANCM):c.5717-4T>A rs781258517 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_030665.4(RAI1):c.1110T>G (p.Phe370Leu) rs754037858 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_172351.3(CD46):c.1050G>A (p.Pro350=) rs1210978043 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=) rs192740549
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000245.4(MET):c.2584-7del rs587780736
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_000546.6(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) rs774172072
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083961.2(WDR62):c.1233+15del rs373693641
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del) rs797045268
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe) rs772401455
NM_001904.4(CTNNB1):c.2182G>C (p.Ala728Pro) rs797045504
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_002168.4(IDH2):c.695C>T (p.Ala232Val) rs1227626398
NM_002472.3(MYH8):c.3254+1G>T rs372740784
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002875.5(RAD51):c.896+6del rs544409089
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del) rs774530705
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004991.4(MECOM):c.2489+6C>T
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) rs777773061
NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu) rs1167372383
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) rs368565898
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=) rs1057522369
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=) rs141674976
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) rs2134698831
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_020699.4(GATAD2B):c.983C>T (p.Thr328Met) rs1261538447
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_024580.6(EFL1):c.91+6A>G
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024675.4(PALB2):c.212-10del rs766487430
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly) rs1555565043
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr) rs3911730
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup) rs767432277
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) rs140816771
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087

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.