ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 249
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
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_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 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_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
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.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.9563+1215A>G
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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