ClinVar Miner

Variants with conflicting interpretations "risk factor" and "uncertain significance"

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

Total variants with conflicting interpretations: 103

HGVS dbSNP gnomAD frequency
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968 0.24062
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NC_000006.12:g.31575254G>A rs1800629 0.14163
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001195755.2(FFAR4):c.761G>A (p.Arg254His) rs116454156 0.01351
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys) rs2075291 0.00514
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_173353.4(TPH2):c.616C>T (p.Pro206Ser) rs17110563 0.00107
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln) rs201307896 0.00081
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser) rs72554080 0.00033
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000514.4(GDNF):c.633C>G (p.Ile211Met) rs121918536 0.00011
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) rs199923448 0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) rs121909065 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777 0.00005
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_004807.3(HS6ST1):c.916C>T (p.Arg306Trp) rs780352591 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe) rs753482575 0.00003
NM_017563.5(IL17RD):c.2204C>T (p.Ala735Val) rs587776979 0.00003
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_001077525.3(MTMR14):c.1385A>G (p.Tyr462Cys) rs121434510 0.00002
NM_001571.6(IRF3):c.854G>A (p.Arg285Gln) rs750526659 0.00002
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp) rs387906656 0.00002
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) rs121909345 0.00002
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr) rs765078446 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_000209.4(PDX1):c.176A>T (p.Gln59Leu) rs137852784 0.00001
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser) rs137853240 0.00001
NM_001077525.3(MTMR14):c.1007G>A (p.Arg336Gln) rs121434509 0.00001
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn) rs121908164 0.00001
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser) rs398122362 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NC_000011.10:g.1219991G>T rs35705950
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) rs397514633
NM_002878.4(RAD51D):c.345G>C (p.Gln115His) rs1555568469
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del) rs750852737
NM_005085.4(NUP214):c.461A>G (p.Asp154Gly) rs1564175808
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro) rs149712114
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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