ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "benign" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) rs147724093 0.00570
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500 0.00374
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_052813.5(CARD9):c.809A>T (p.Glu270Val) rs114895119 0.00356
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg) rs61996335 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_080424.4(SP110):c.583+8A>G rs114743173 0.00224
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_002831.6(PTPN6):c.9-6G>A rs200900053 0.00214
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) rs144301161 0.00210
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=) rs200309704 0.00163
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp) rs149564430 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00027
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala) rs764159372 0.00021
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile) rs140533677 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_005428.4(VAV1):c.724-11C>T rs367963535 0.00013
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=) rs782557596 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_000081.4(LYST):c.3940-17dup
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_031483.7(ITCH):c.1570-3del rs759646195
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570

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.