ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genetic Services Laboratory, University of Chicago and "uncertain significance" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 97
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
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_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) rs587783544
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) rs587783568
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) rs747485179
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653

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