ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Mendelics and "pathogenic" 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: 156
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HGVS dbSNP gnomAD frequency
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_001453.3(FOXC1):c.*734A>T rs35717904 0.00356
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln) rs116529882 0.00091
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 0.00061
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000374.5(UROD):c.425G>A (p.Arg142Gln) rs1182234844 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001330195.2(NRXN3):c.3142+3A>G rs531047390 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_018196.4(TMLHE):c.359-2A>G rs782792356 0.00001
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) rs74315350 0.00001
NC_012920.1:m.8851T>C rs199476136
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000374.5(UROD):c.703C>T (p.Pro235Ser) rs141312224
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001453.3(FOXC1):c.-429C>G rs77888940
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_003239.5(TGFB3):c.171del (p.Glu58fs) rs1594792466
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_182641.4(BPTF):c.255dup (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
m.8342G>A rs118192103

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