ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "likely pathogenic" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 176
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HGVS dbSNP
NC_012920.1:m.14484T>C rs199476104
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.4(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T rs193922185
NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)
NM_000138.5(FBN1):c.6453C>T rs794728251
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000326.5(RLBP1):c.141+2T>C rs760650165
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000558.5(HBA1):c.96-1G>A rs34883113
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001135599.3(TGFB2):c.905dup (p.Asn302fs) rs863223796
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001286042.1(ACADM):c.10+3660_10+3666dup rs875989875
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004437.4(EPB41):c.1A>G (p.Met1Val) rs1557948192
NM_004572.3(PKP2):c.1511-2A>T rs1453983744
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_007294.3(BRCA1):c.5193+1del rs397509236
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524

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