ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Baylor Genetics and "likely benign" from any submitter

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 613
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys) rs201231274 0.00239
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) rs73764462 0.00229
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) rs116772777 0.00227
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00210
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr) rs114888195 0.00210
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00202
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_001127178.3(PIGG):c.724G>A (p.Val242Met) rs144411585 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu) rs142031266 0.00181
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) rs185712951 0.00122
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_001379081.2(FREM1):c.4442+3G>A rs181859461 0.00119
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe) rs138588942 0.00116
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro) rs141605537 0.00093
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) rs146175329 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val) rs140802292 0.00075
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val) rs151166583 0.00069
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001481.3(GAS8):c.841G>C (p.Asp281His) rs139167960 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr) rs148694888 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) rs186203343 0.00054
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) rs200770933 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile) rs199646095 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) rs771475772 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met) rs148466782 0.00019
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp) rs143647372 0.00018
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) rs139884665 0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349 0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys) rs148419444 0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser) rs773172347 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile) rs753763148 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn) rs200083914 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) rs55760835 0.00008
NM_004304.5(ALK):c.875G>A (p.Arg292His) rs149145987 0.00008
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser) rs570483616 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile) rs201141245 0.00007
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp) rs371147849 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_001006658.3(CR2):c.818-4C>T rs370106455 0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp) rs139727620 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_005419.4(STAT2):c.903C>T (p.Asn301=) rs145152331 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) rs150974807 0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_021629.4(GNB4):c.204-4C>G rs377746889 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) rs367658130 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) rs199987354 0.00005
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr) rs577651839 0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly) rs537395900 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln) rs200305545 0.00004
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg) rs770407151 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588 0.00004
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004946.3(DOCK2):c.1384-4T>C rs1295678117 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.2738A>G (p.His913Arg) rs762572576 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp) rs138729094 0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_004304.5(ALK):c.872G>A (p.Arg291His) rs572340007 0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) rs368873021 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg) rs947155109 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr) rs753435616 0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val) rs758624540 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_002691.4(POLD1):c.1597G>A (p.Val533Met) rs758602573 0.00002
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg) rs762395127 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004656.4(BAP1):c.1251-11G>A rs981419588 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007327.4(GRIN1):c.794-11T>A rs1347697507 0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu) rs773193617 0.00002
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) rs760625882 0.00002
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) rs545119348 0.00002
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) rs61756146 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_144997.7(FLCN):c.249+4A>G rs753648691 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_000018.4(ACADVL):c.342+18G>A rs372594520 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser) rs1229142303 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) rs553440338 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=) rs1449749900 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met) rs751431238 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr) rs587780022 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000487.6(ARSA):c.979+8C>T rs746862304 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.421-12T>G rs890418965 0.00001
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp) rs759822330 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001164508.2(NEB):c.22906-6C>T rs1449487575 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=) rs1192420369 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg) rs148287864 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G rs774476953 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) rs374132564 0.00001
NM_003482.4(KMT2D):c.14075+8C>T rs962057732 0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) rs1938304119 0.00001
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg) rs773367495 0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) rs762358335 0.00001
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr) rs754163075 0.00001
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn) rs761459938 0.00001
NM_004304.5(ALK):c.4237G>A (p.Val1413Met) rs560530815 0.00001
NM_004304.5(ALK):c.775C>T (p.Arg259Cys) rs771593278 0.00001
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) rs780128851 0.00001
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=) rs1463023336 0.00001
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=) rs1037182844 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_007194.4(CHEK2):c.1009-7T>G rs763174055 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile) rs1290033369 0.00001
NM_016204.4(GDF2):c.252G>A (p.Glu84=) rs1410431494 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn) rs956172059 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met) rs587780820 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile) rs367840862 0.00001
NM_025077.4(TOE1):c.-38G>C rs774530388 0.00001
NM_032409.3(PINK1):c.1123+19A>G rs762129771 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_145207.3(AFG2A):c.164-4A>G rs752411823 0.00001
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp) rs750960862
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln) rs370708814
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro) rs1555290016
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val) rs144412585
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000294.3(PHKG2):c.927+13G>A rs371298131
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000465.4(BARD1):c.215+9T>G rs1559441723
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001113525.2(ZNF276):c.*732G>A rs775180524
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=) rs766083746
NM_001127178.3(PIGG):c.846C>A (p.Thr282=) rs144638389
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001379110.1(SLC9A6):c.1080+17A>G rs2070960570
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
NM_004304.5(ALK):c.7G>A (p.Ala3Thr) rs1446332510
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) rs1851242529
NM_005591.4(MRE11):c.1868-5T>C rs773911334
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) rs1761351808
NM_006785.4(MALT1):c.1401-15G>T rs371051170
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile) rs80357084
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser) rs730881200
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015937.6(PIGT):c.848A>T (p.Asp283Val) rs574857016
NM_018026.4(PACS1):c.661-15T>A rs1565150720
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
NM_025000.4(DCAF17):c.231-8T>A
NM_130839.5(UBE3A):c.2124+19T>G rs587782925
NM_130839.5(UBE3A):c.62+20G>A rs587782906
NM_130839.5(UBE3A):c.63-19_63-17del rs587782921
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr) rs9835034

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.