ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Mendelics and "uncertain significance" from any submitter

Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 155
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) rs773957702 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) rs770792767 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu) rs372955218 0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316

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