ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "likely benign" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 99
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580

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