ClinVar Miner

List of variants in gene IVD reported as uncertain significance

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Gene type:
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Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.*2630G>A rs28654574 0.00497
NM_002225.5(IVD):c.*131G>A rs190115786 0.00135
NM_002225.5(IVD):c.*1240T>A rs146819701 0.00099
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_002225.5(IVD):c.*290dup rs529793013 0.00067
NM_002225.5(IVD):c.*1005T>C rs560096869 0.00031
NM_002225.5(IVD):c.*287C>T rs565064447 0.00031
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00021
NM_002225.5(IVD):c.*805G>A rs183425220 0.00019
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_002225.5(IVD):c.*1313C>G rs550652153 0.00014
NM_002225.5(IVD):c.*1839C>G rs186670312 0.00014
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_002225.5(IVD):c.*566A>T rs549510775 0.00013
NM_002225.5(IVD):c.*2001G>A rs185013442 0.00011
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049 0.00011
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.*123G>A rs536728525 0.00009
NM_002225.5(IVD):c.*2205C>T rs185128282 0.00009
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_002225.5(IVD):c.*1172C>T rs532691940 0.00005
NM_002225.5(IVD):c.*1884G>A rs1325854341 0.00005
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00005
NM_002225.5(IVD):c.*338G>A rs879231133 0.00004
NM_002225.5(IVD):c.*611T>G rs886051130 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002225.5(IVD):c.52C>T (p.Arg18Trp) rs375138989 0.00004
NM_002225.3(IVD):c.-237G>C rs749128466 0.00003
NM_002225.5(IVD):c.*699G>A rs1039225701 0.00003
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.895C>G (p.Leu299Val) rs149247895 0.00003
NM_002225.5(IVD):c.*112G>T rs558721558 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser) rs544110604 0.00002
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002225.3(IVD):c.-315C>G rs886051126 0.00001
NM_002225.5(IVD):c.*1090A>G rs1257277262 0.00001
NM_002225.5(IVD):c.*1117G>A rs886051132 0.00001
NM_002225.5(IVD):c.*1636G>A rs560135738 0.00001
NM_002225.5(IVD):c.*196G>A rs1417892978 0.00001
NM_002225.5(IVD):c.*2005G>A rs886051135 0.00001
NM_002225.5(IVD):c.*204T>G rs886051127 0.00001
NM_002225.5(IVD):c.*652C>T rs761306144 0.00001
NM_002225.5(IVD):c.*798A>G rs1278287842 0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.1139-3C>G rs367891946 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.202A>G (p.Ile68Val) rs758926864 0.00001
NM_002225.5(IVD):c.227A>G (p.Asn76Ser) rs1398705262 0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp) rs779579351 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 0.00001
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002225.5(IVD):c.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00001
NM_002225.5(IVD):c.803A>G (p.His268Arg) rs201778625 0.00001
NM_002225.5(IVD):c.833G>C (p.Ser278Thr) rs746615207 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*1245C>T rs974616361
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T rs910131258
NM_002225.5(IVD):c.*1984G>C rs969539454
NM_002225.5(IVD):c.*2125A>C rs1048450160
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T rs1892216503
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T rs781683880
NM_002225.5(IVD):c.*2883T>A rs181699798
NM_002225.5(IVD):c.*2960C>T rs926243484
NM_002225.5(IVD):c.*3036A>C rs913379191
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*568A>T rs1891996350
NM_002225.5(IVD):c.*787T>C rs1892021365
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T rs373923824
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1066-20A>G
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
NM_002225.5(IVD):c.107A>G (p.Asp36Gly) rs2141289941
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser) rs1469021843
NM_002225.5(IVD):c.1138+3_1138+14del
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg) rs1891683650
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
NM_002225.5(IVD):c.1196T>A (p.Leu399Gln)
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
NM_002225.5(IVD):c.125T>A (p.Leu42Gln) rs121434284
NM_002225.5(IVD):c.125T>G (p.Leu42Arg) rs121434284
NM_002225.5(IVD):c.129C>A (p.Ser43Arg) rs918899977
NM_002225.5(IVD):c.133G>A (p.Glu45Lys) rs1890355188
NM_002225.5(IVD):c.137A>G (p.Gln46Arg) rs1890355492
NM_002225.5(IVD):c.137A>T (p.Gln46Leu) rs1890355492
NM_002225.5(IVD):c.142C>G (p.Gln48Glu) rs771280106
NM_002225.5(IVD):c.145C>A (p.Leu49Ile)
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.179A>C (p.His60Pro)
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
NM_002225.5(IVD):c.320A>G (p.Glu107Gly) rs2141323321
NM_002225.5(IVD):c.34G>A (p.Val12Met)
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
NM_002225.5(IVD):c.379G>C (p.Gly127Arg) rs754570116
NM_002225.5(IVD):c.380G>T (p.Gly127Val) rs1195537609
NM_002225.5(IVD):c.415C>T (p.Arg139Cys) rs376324882
NM_002225.5(IVD):c.417C>T (p.Arg139=)
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
NM_002225.5(IVD):c.437A>G (p.Lys146Arg)
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3C>T
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.475A>G (p.Ile159Val)
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
NM_002225.5(IVD):c.504T>G (p.Asn168Lys)
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.521T>G (p.Val174Gly) rs1891058364
NM_002225.5(IVD):c.550+6G>A rs1891063818
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
NM_002225.5(IVD):c.607G>C (p.Asp203His) rs2141331313
NM_002225.5(IVD):c.60G>T (p.Pro20=) rs1482549847
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
NM_002225.5(IVD):c.634G>C (p.Asp212His)
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
NM_002225.5(IVD):c.646G>A (p.Val216Met)
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
NM_002225.5(IVD):c.667A>G (p.Thr223Ala)
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
NM_002225.5(IVD):c.678T>G (p.Ile226Met) rs1891104586
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
NM_002225.5(IVD):c.721G>A (p.Asp241Asn) rs2141340100
NM_002225.5(IVD):c.772T>G (p.Cys258Gly) rs2141340538
NM_002225.5(IVD):c.785-20A>G rs727503970
NM_002225.5(IVD):c.813G>A (p.Lys271=) rs767825575
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
NM_002225.5(IVD):c.823G>A (p.Val275Met) rs757832700
NM_002225.5(IVD):c.823G>C (p.Val275Leu) rs757832700
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
NM_002225.5(IVD):c.860T>C (p.Leu287Pro)
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.889G>A (p.Ala297Thr) rs2141355228
NM_002225.5(IVD):c.919C>T (p.His307Tyr) rs2141355545
NM_002225.5(IVD):c.995G>A (p.Arg332His)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766

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