ClinVar Miner

List of variants reported by 3DMed Clinical Laboratory Inc

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) rs150036236 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_000038.6(APC):c.1396A>G (p.Met466Val) rs781364007 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu) rs529543591 0.00002
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803 0.00002
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu) rs756951335 0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg) rs397517102 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_000038.6(APC):c.1576A>G (p.Met526Val) rs777219286 0.00001
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) rs1447250546 0.00001
NM_000038.6(APC):c.2414G>A (p.Arg805Gln) rs200593940 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.4591A>C (p.Asn1531His) rs771096141 0.00001
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712 0.00001
NM_000038.6(APC):c.811A>G (p.Met271Val) rs587781464 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) rs276174818 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu) rs149753706 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.7488G>C (p.Lys2496Asn) rs774994294 0.00001
NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu) rs1289414853 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) rs139429793 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.4358-2773A>G rs750825948 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) rs368434773
NM_000038.6(APC):c.2190G>A (p.Met730Ile) rs1281171015
NM_000038.6(APC):c.2558A>G (p.Glu853Gly) rs1554084263
NM_000038.6(APC):c.2804A>G (p.Tyr935Cys) rs1554084481
NM_000038.6(APC):c.2828C>A (p.Ser943Ter) rs1554084512
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3160C>T (p.His1054Tyr) rs1195583636
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4297C>T (p.Pro1433Ser) rs1554085738
NM_000038.6(APC):c.4440G>C (p.Gln1480His) rs876659881
NM_000038.6(APC):c.4658C>T (p.Ala1553Val) rs1554086050
NM_000038.6(APC):c.4687C>G (p.Leu1563Val) rs1554086098
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5473G>T (p.Asp1825Tyr) rs1203079846
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg) rs1554087256
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) rs1060503292
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser) rs1389311736
NM_000038.6(APC):c.7026A>T (p.Leu2342Phe) rs766086022
NM_000038.6(APC):c.7447G>A (p.Val2483Ile) rs1554088371
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.8396C>T (p.Ser2799Leu) rs1554089094
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn) rs1554089164
NM_000038.6(APC):c.876G>C (p.Leu292Phe) rs760059672
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp) rs1064793835
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.4(BRCA2):c.2595del (p.Glu866fs) rs483353111
NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr) rs28897716
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs) rs397507643
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs) rs397507644
NM_000059.4(BRCA2):c.3074A>G (p.Lys1025Arg) rs1555283038
NM_000059.4(BRCA2):c.3875T>A (p.Leu1292Gln) rs1555283446
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) rs1270552356
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile) rs786202874
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4639G>A (p.Asp1547Asn) rs1555283880
NM_000059.4(BRCA2):c.5323G>C (p.Val1775Leu) rs1555284171
NM_000059.4(BRCA2):c.5879del (p.Cys1960fs) rs1555284442
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.4(BRCA2):c.6256_6259del (p.Ile2086fs) rs1555284612
NM_000059.4(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs) rs397507851
NM_000059.4(BRCA2):c.6715G>A (p.Glu2239Lys) rs276174876
NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs) rs397507894
NM_000059.4(BRCA2):c.7426G>C (p.Glu2476Gln) rs879248686
NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del) rs1593882341
NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs) rs869320800
NM_000059.4(BRCA2):c.9206G>A (p.Cys3069Tyr) rs587782091
NM_000059.4(BRCA2):c.92G>T (p.Trp31Leu) rs397508045
NM_000059.4(BRCA2):c.994dup (p.Ile332fs) rs80359777
NM_000179.3(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys) rs187862045
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.4(BRCA1):c.1769_1771del (p.Ser590del) rs1555591267
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1966A>T (p.Asn656Tyr) rs786203455
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs) rs80357912
NM_007294.4(BRCA1):c.3059del (p.Pro1020fs) rs1555588460
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs) rs886040109
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) rs397509072
NM_007294.4(BRCA1):c.3621del (p.Lys1208fs) rs1555587401
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4271A>G (p.Gln1424Arg) rs1555584133
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys) rs397507232
NM_007294.4(BRCA1):c.4484+2T>C rs1555582520
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.5172dup (p.Glu1725fs) rs1555578360
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) rs1555461176
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) rs745444171
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs) rs752586524

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