ClinVar Miner

Variants with conflicting interpretations "benign" from Color Health, Inc and "uncertain significance" from any submitter

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 124
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000059.3(BRCA2):c.79A>G (p.Ile27Val) rs80359034
NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000077.4(CDKN2A):c.151-4G>C rs529380972
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4211-10C>T rs28730793
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) rs587782331
NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) rs41294984
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.905-15C>G rs72653061
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1586+16G>A
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val) rs35352891
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn) rs201141645
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) rs55842957
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024675.3(PALB2):c.928A>G (p.Ser310Gly) rs45561331
NM_024675.3(PALB2):c.950C>T (p.Thr317Ile) rs45548638
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261

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.