ClinVar Miner

List of variants reported as uncertain significance by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Minimum conflict level:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_201596.3(CACNB2):c.121-4T>G rs74120235 0.00088
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001145715.3(KPNA7):c.461A>T (p.Glu154Val) rs200308603 0.00069
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) rs139068225 0.00059
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) rs143671350 0.00058
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His) rs201420492 0.00055
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys) rs769575268 0.00021
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) rs200983489 0.00021
NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln) rs373215657 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln) rs138914992 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_182919.4(TICAM1):c.470C>T (p.Thr157Met) rs770166865 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_001048166.1(STIL):c.1374C>G (p.His458Gln) rs527253805 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363 0.00013
NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg) rs142275662 0.00013
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) rs201801258 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile) rs147564959 0.00009
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys) rs543584983 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) rs151083083 0.00007
NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr) rs201490686 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser) rs376564758 0.00004
NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter) rs200799739 0.00004
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu) rs767949941 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_002474.3(MYH11):c.769G>A (p.Val257Met) rs112992497 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) rs780659624 0.00004
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_017849.4(TMEM127):c.398A>G (p.His133Arg) rs587782203 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) rs367619172 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_001367561.1(DOCK7):c.38+6T>C rs1029588198 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln) rs762044635 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_000038.6(APC):c.2723C>G (p.Ser908Cys) rs746393911 0.00001
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=) rs200757418 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) rs180824037 0.00001
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu) rs1057518295 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) rs768015377 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000038.6(APC):c.397T>G (p.Tyr133Asp) rs763487503
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys) rs370339547
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala) rs1057519255
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr) rs1057519258
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val) rs1595597551
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_006231.4(POLE):c.4006-1G>T rs1057519256
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr) rs1057519257
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser) rs1057519249
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1]) rs772557308
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) rs2043824248
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417

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