ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center and "pathogenic" from any submitter

Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 139
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) rs370840009 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys) rs2056165149 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) rs2023146719
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_001042492.3(NF1):c.1658A>C (p.His553Pro) rs1064794274
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs) rs763305896
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs) rs1639761448
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe) rs2136007588
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016580.4(PCDH12):c.309del (p.Cys104fs) rs1753206427
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs) rs397518417

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