ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Mayo Clinic Laboratories, Mayo Clinic and "uncertain significance" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 116
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu) rs80222298 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser) rs141269120
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
Single allele

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