ClinVar Miner

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

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 166
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro) rs372365287 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser) rs753124330 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) rs2128241170
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) rs2124857932
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032536.4(NTNG2):c.858-13G>A rs1840794100
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453

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