ClinVar Miner

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

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

Total variants with conflicting interpretations: 188

HGVS dbSNP
AGT, -6A HAPLOTYPE
CD36, G1439C, 1-BP DEL, 1444A
CHEK2, 1-BP DEL, 1100C
CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)
HLA-B*57:01
IL1RN, IVS2, 86-BP DUP
MECP2, 41-BP DEL, NT1157
Multiple alleles
NC_000001.11:g.(196753076_?)_(?_196839375)del
NC_000022.11:g.(?_18906222)_(18936553_?)del
NG_008165.1:g.12526_12528CAM[(>46)]
NG_012123.1:g.2493A>G rs1024611
NG_016173.1:g.37172CTG[(107_127)]
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) rs104894095
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.226_244del (p.Ala76Cysfs) rs587776716
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.4(CDKN2A):c.339_340delGCinsCT (p.Pro114Ser) rs387906410
NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000102.3(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000115.4(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000157.3(GBA):c.1448T>C rs421016
NM_000186.3(CFH):c.1204C= (p.His402=) rs1061170
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000209.3(PDX1):c.492G>T (p.Glu164Asp) rs80356661
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000224.2(KRT18):c.383A>T (p.His128Leu) rs57758506
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268
NM_000240.3(MAOA):c.-1241_-1212ACCGGCACCGGCACCAGTACCCGCACCAGT(3_5) rs1346551029
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
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.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr) rs104893973
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000506.4(F2):c.*97G>A rs1799963
NM_000514.3(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.7042_7044delGAG (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000550.2(TYRP1):c.497C>G (p.Ser166Ter) rs104894130
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000603.4(NOS3):c.894T>G (p.Asp298Glu) rs1799983
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_000816.3(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_000903.2(NQO1):c.559C>T (p.Pro187Ser) rs1800566
NM_001001547.2(CD36):c.975T>G (p.Tyr325Ter) rs3211938
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001134944.1(GHRL):c.178C>A (p.Leu60Met) rs696217
NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met) rs527236158
NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg) rs527236159
NM_001194958.2(KCNJ18):c.429delC (p.Ile144Serfs) rs527236153
NM_001195132.1(CDKN2A):c.9_32dup (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro) rs587780668
NM_001195263.2(PDZD7):c.166dup (p.Arg56Profs) rs587776894
NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001256849.1(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_001256849.1(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) rs558269137
NM_002016.1(FLG):c.3321delA (p.Gly1109Glufs) rs200519781
NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) rs121909626
NM_002273.3(KRT8):c.184G>T (p.Gly62Cys) rs11554495
NM_002382.4(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.4(MAX):c.295+1G>A rs786203385
NM_002382.4(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002421.3(MMP1):c.-1673G=
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002973.3:c.496_498CAG([33_?])
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.4(ALK):c.3452C>T (p.Thr1151Met) rs113994091
NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) rs193922928
NM_005430.4(WNT1):c.859dup (p.His287Profs) rs387907353
NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006267.4(RANBP2):c.1958C>T (p.Thr653Ile) rs121434503
NM_006267.4(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007272.2(CTRC):c.164G>A (p.Trp55Ter) rs121909294
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007289.2(MME):c.467delC (p.Pro156Leufs) rs749320057
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) rs121908164
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter) rs751185256
NM_015697.8(COQ2):c.382A>G (p.Met128Val) rs778094136
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_016222.3(DDX41):c.3G>A (p.Met1Ile) rs141601766
NM_016222.3(DDX41):c.415_418dup (p.Asp140Glyfs) rs762890562
NM_016335.4(PRODH):c.1292G>A (p.Arg431His) rs2904552
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.4(PRODH):c.1363G>T (p.Ala455Ser) rs1807467
NM_016335.4(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) rs450046
NM_016335.4(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016835.4(MAPT):c.1838_1840delATA (p.Asn613del) rs63751392
NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) rs121909192
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_018100.3(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018196.3(TMLHE):c.961_962delAT (p.Ile321Leufs) rs782624357
NM_020937.3(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_022162.2(NOD2):c.2798+158C>T rs5743289
NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) rs180177102
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_032146.5(ARL6):c.506G>C (p.Gly169Ala) rs104893679
NM_032638.4(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_058216.2(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.2(RAD51C):c.837+1G>A rs760235677
NM_058216.2(RAD51C):c.93delG (p.Phe32Serfs) rs730881942
NM_144670.5(A2ML1):c.2478_2485dupGGCTAAAT (p.Ser829Trpfs) rs863224951
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_181332.2(NLGN4X):c.1254_1255del (p.Glu418Aspfs)
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_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_198903.2(GABRG2):c.889+2T>G
PALB2:c.2515-1G>T rs587776417
TBX21, -1993T-C
nsv513783

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