ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 391
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys) rs143595616 0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NC_012920.1:m.3243A>G rs199474657
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001080517.3(SETD5):c.960-5C>G rs2125193661
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys) rs2136209186
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter) rs2078539742
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn) rs2137081759
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003238.6(TGFB2):c.933-1G>A
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) rs866688232
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_021095.4(SLC5A6):c.393+2T>C
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) rs2145432318
NM_031307.4(PUS3):c.366_367del (p.Ala123fs) rs1944570170
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109

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