ClinVar Miner

List of variants reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 257
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HGVS dbSNP
NC_012920.1:m.4983C>T rs1556422937
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.424_426AAG[2] (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr) rs1567563311
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000020.2(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.2(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.2(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.2(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000088.3(COL1A1):c.1102G>C (p.Gly368Arg) rs72645367
NM_000088.3(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.3(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
NM_000088.3(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.3(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.3(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.3(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000089.3(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.3(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000090.3(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000095.3(COMP):c.1675G>A (p.Glu559Lys) rs1568554484
NM_000118.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.3(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.3(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.3(F8):c.222G>A (p.Thr74=) rs1232517683
NM_000132.3(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.3(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.3(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.3(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.3(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.3(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000133.3(F9):c.1256T>G (p.Val419Gly) rs137852280
NM_000133.3(F9):c.1289G>A (p.Ser430Asn) rs1569333062
NM_000133.3(F9):c.161A>T (p.Glu54Val) rs1569481966
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000138.4(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.4(FBN1):c.1825C>T (p.Arg609Cys) rs772574901
NM_000138.4(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.4(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753
NM_000138.4(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.4(FBN1):c.387C>G (p.Cys129Trp) rs1566935514
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.5009A>G (p.Tyr1670Cys) rs1566903532
NM_000138.4(FBN1):c.6185A>G (p.Tyr2062Cys) rs1555395266
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.7217G>T (p.Cys2406Phe) rs1131691479
NM_000138.4(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000244.3(MEN1):c.125G>T (p.Gly42Val) rs1565652689
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1406del (p.Ala469fs) rs1555163858
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000256.3(MYBPC3):c.3764_3766CCA[1] (p.Thr1256del) rs397516040
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000282.4(PCCA):c.2127_2128TG[1] (p.Val710fs) rs1317003529
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000314.7(PTEN):c.635-1G>T rs876661024
NM_000314.7(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000346.4(SOX9):c.429G>T (p.Trp143Cys) rs1567910317
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.766_767dup (p.Met258fs) rs1555895069
NM_000371.3(TTR):c.239C>T (p.Thr80Ile) rs1254341785
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000495.5(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_000495.5(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_000495.5(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_000495.5(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_000495.5(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000551.3(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000552.4(VWF):c.2447G>A (p.Arg816Gln) rs62643634
NM_000552.4(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.4(VWF):c.4075G>A (p.Glu1359Lys) rs61749407
NM_000552.4(VWF):c.4508T>A (p.Leu1503Gln) rs61750097
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_001006657.2(WDR35):c.2623G>A (p.Ala875Thr) rs267607175
NM_001006657.2(WDR35):c.3203A>G (p.Tyr1068Cys) rs541910371
NM_001006657.2(WDR35):c.322_323GA[3] (p.Met109fs) rs745486923
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) rs1567144266
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) rs1567206560
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) rs1567187434
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs) rs748900391
NM_001142446.2(ANK1):c.3744_3745CT[1] (p.Ser1249fs)
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) rs1240944758
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs) rs1553526134
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs) rs1553526116
NM_001278074.1(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_001360.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) rs1192554889
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001370658.1(BTD):c.248del (p.Lys83fs) rs1553652177
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001770.5(CD19):c.1303+1G>C rs372929312
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) rs1555167372
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser) rs886042741
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg) rs1565672299
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) rs1555165237
NM_001943.5(DSG2):c.1652-1G>A rs1382430464
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) rs1555710089
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro) rs1554499091
NM_002769.5(PRSS1):c.416G>T (p.Cys139Phe) rs768853338
NM_002880.3(RAF1):c.769T>A (p.Ser257Thr) rs727505017
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004586.3(RPS6KA3):c.356G>C (p.Arg119Pro) rs1057517947
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_007272.3(CTRC):c.640-12G>A rs183053579
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter) rs777894746
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545
NM_015404.3(WHRN):c.837+1delG rs749910508
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) rs1332576936
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) rs1305675114
NM_017433.5(MYO3A):c.2180dup (p.Asn727fs) rs769462859
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_021625.4(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504
NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter) rs751408583
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_172056.2(KCNH2):c.1873G>C (p.Val625Leu) rs1563156725
NM_172057.2(KCNH2):c.1843C>G (p.Leu615Val) rs199473012
NM_172107.4(KCNQ2):c.992A>C (p.Lys331Thr) rs1568925523
NM_181798.1(KCNQ1):c.261C>A (p.Cys87Ter) rs775479779
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter) rs1564400585

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