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: 99

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
NM_000594.3(TNF):c.-488G>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_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
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_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
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_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
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_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_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_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 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_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_014920.5(CILK1):c.914A>C (p.Lys305Thr) rs765078446 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_002471.4(MYH6):c.2161C>T (p.Arg721Trp) rs387906656 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_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_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 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
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
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_002458.2(MUC5B):c.-3133G>T rs35705950
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_003924.4(PHOX2B):c.590G>A (p.Gly197Asp) rs104893856
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

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.