ClinVar Miner

Variants with conflicting interpretations "benign" and "benign"

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

Total variants with conflicting interpretations: 135

HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000251.3(MSH2):c.1077-80G>A rs2347794 0.53152
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_005105.5(RBM8A):c.67+93A>T rs872786 0.29287
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_144997.7(FLCN):c.871+36G>A rs3744124 0.07420
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000249.4(MLH1):c.381-41A>G rs4647245 0.01794
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00250
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084

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