ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genetic Services Laboratory, University of Chicago and "pathogenic" 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: 231
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) rs201239579 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) rs397509387 0.00001
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter) rs2083414866
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2870+1G>A rs765241115
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs) rs886041308
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) rs387906819
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter) rs2140192948
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)

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