ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, University of Leipzig Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 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_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) rs45588036 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_014270.5(SLC7A9):c.604+2T>C rs763110287 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) rs1562945106
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) rs1753213218
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.