ClinVar Miner

Variants with conflicting interpretations "benign" and "risk factor"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (risk factor) minimum review status: Submission 2 (risk factor) method:
ClinVar version:

Total variants with conflicting interpretations: 109

HGVS dbSNP
GNB3, 825C-T
GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS
NM_000014.5(A2M):c.2126-6_2126-2del rs1799759
NM_000014.5(A2M):c.2998A>G (p.Ile1000Val) rs669
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000024.5(ADRB2):c.79C>G (p.Gln27Glu) rs1042714
NM_000029.3(AGT):c.803T>C (p.Met268Thr) rs699
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000064.3(C3):c.304C>G (p.Arg102Gly) rs2230199
NM_000113.2(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000131.4(F7):c.1238G>A (p.Arg413Gln) rs6046
NM_000163.4(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) rs5918
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000311.4(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) rs138925964
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000439.4(PCSK1):c.661A>G (p.Asn221Asp) rs6232
NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000508.4(FGA):c.991A>G (p.Thr331Ala) rs6050
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000557.4(GDF5):c.-275T>C rs143383
NM_000603.4(NOS3):c.894T>G (p.Asp298Glu) rs1799983
NM_000628.4(IL10RB):c.139A>G (p.Lys47Glu) rs2834167
NM_000660.6(TGFB1):c.29C>T (p.Pro10Leu) rs1800470
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_000815.4(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_000927.4(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001001547.2(CD36):c.975T>G (p.Tyr325Ter) rs3211938
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001024465.2(SOD2):c.47T>C (p.Val16Ala) rs4880
NM_001063.3(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001065.3(TNFRSF1A):c.625+10A>G rs1800693
NM_001072.3(UGT1A6):c.862-10021T>G rs4124874
NM_001166110.1(PALLD):c.415C>T (p.Pro139Ser) rs121908291
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001201397.1(EDNRB):c.1184G>A (p.Ser395Asn) rs5352
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001846.3(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001854.3(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001875.4(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
NM_001994.2(F13B):c.344G>A (p.Arg115His) rs6003
NM_002087.3(GRN):c.*78C>T rs5848
NM_002381.4(MATN3):c.908C>T (p.Thr303Met) rs77245812
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002454.2(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_003122.4(SPINK1):c.56-37T>C rs17107318
NM_003227.3(TFR2):c.1364G>A (p.Arg455Gln) rs41303501
NM_003235.4(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.4(TG):c.3082A>G (p.Met1028Val) rs853326
NM_003235.4(TG):c.5995C>T (p.Arg1999Trp) rs2076740
NM_004132.4(HABP2):c.1601G>A (p.Gly534Glu) rs7080536
NM_005142.2(CBLIF):c.68A>G (p.Gln23Arg) rs35211634
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_006080.2(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181
NM_006208.3(ENPP1):c.*1043A>G rs7754561
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) rs450046
NM_018006.4(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018100.3(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_020630.5(RET):c.135A= (p.Ala45=) rs1800858
NM_020708.4(SLC12A5):c.2855G>A (p.Arg952His) rs142740233
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.5(RET):c.73+9277T>C rs2435357
NM_021098.2(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258
NM_021642.3(FCGR2A):c.497A>G (p.His166Arg) rs1801274
NM_021912.4(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022166.3(XYLT1):c.343G>T (p.Ala115Ser) rs61758388
NM_025074.6(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_030803.6(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880
NM_031850.3(AGTR1):c.*86A>C rs5186
NM_032737.3(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_130810.3(DNAAF4):c.-3G>A rs3743205
NM_130810.3(DNAAF4):c.1249G>T (p.Glu417Ter) rs57809907
NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363
NM_147686.3(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500
NM_153704.5(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
NM_170735.5(BDNF):c.196G>A (p.Val66Met) rs6265
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_197947.2(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_207034.2(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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.