ClinVar Miner

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

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

Total variants with conflicting interpretations: 148

HGVS dbSNP
GNB3, 825C-T
GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS
NC_012920.1(MT-ND6):m.14502T>C
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.46A>G (p.Arg16Gly) rs1042713
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000069.2(CACNA1S):c.-476G>A rs2281845
NM_000069.3(CACNA1S):c.258+57G>A rs1325310
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000120.4(EPHX1):c.337T>C (p.Tyr113His) rs1051740
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) rs5918
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) rs138925964
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000506.5(F2):c.*97G>A rs1799963
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000557.5(GDF5):c.-275= rs143383
NM_000579.3(CCR5):c.554_585del (p.Ser185fs) rs333
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) rs2834167
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) rs4880
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451
NM_001001547.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001060.5(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001875.5(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
NM_001994.2(F13B):c.344G>A (p.Arg115His) rs6003
NM_002087.4(GRN):c.*78C>T rs5848
NM_002381.5(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_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002658.5(PLAU):c.422C>T (p.Pro141Leu) rs2227564
NM_003122.4(SPINK1):c.56-37T>C rs17107318
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536
NM_005142.3(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_006080.3(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_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) rs72470544
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015967.7(PTPN22):c.1858C>T (p.Arg620Trp) rs2476601
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022162.3(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880
NM_031850.3(AGTR1):c.*86A>C rs5186
NM_032603.5(LOXL3):c.*908C>T rs72470545
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_130810.4(DNAAF4):c.-3G>A rs3743205
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter) rs57809907
NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_199451.3(ZNF365):c.1130-972= rs7076156
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921
m.12397A>G rs1556424100
m.14319T>C rs199476110
m.15497G>A rs199951903
m.15965A>G rs199474700
m.8393C>T rs1556423442

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