ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 190
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
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_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825 0.00636
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411 0.00400
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749 0.00303
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr) rs147622709 0.00295
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn) rs146849256 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001388492.1(HTT):c.3344C>G (p.Ala1115Gly) rs1065747 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_001324144.2(ZNF41):c.332C>T (p.Pro111Leu) rs104894955 0.00065
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_020754.4(ARHGAP31):c.2312T>C (p.Val771Ala) rs374149626 0.00032
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val) rs149900041 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_004944.4(DNASE1L3):c.217G>A (p.Glu73Lys) rs149330798 0.00021
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His) rs745776063 0.00006
NM_001374828.1(ARID1B):c.5914C>A (p.Pro1972Thr) rs779490460 0.00002
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_014795.4(ZEB2):c.388A>G (p.Ile130Val) rs1057520175 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001374828.1(ARID1B):c.1268C>T (p.Ala423Val) rs878853084
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377

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