ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "benign" 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
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000335.5(SCN5A):c.2437-5C>A rs72549411
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) rs75673983
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133
NM_001364905.1(LRBA):c.6448+17A>G
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899
NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) rs200596739
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006371.4(CRTAP):c.49G>A (p.Val17Met) rs200576259
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser)
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024582.4(FAT4):c.12064C>T (p.Arg4022Trp) rs138019311
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_144687.3(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006
NM_144687.3(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
Single allele rs28359170

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