ClinVar Miner

List of variants studied for Chondrocalcinosis 2 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99568
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94776
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87166
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06312
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_054027.6(ANKH):c.*3899T>C rs559763037 0.04947
NM_054027.6(ANKH):c.*4672G>A rs61502042 0.02679
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02462
NM_054027.6(ANKH):c.*4182T>G rs13358074 0.02029
NM_054027.6(ANKH):c.*4244T>A rs137905502 0.01911
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01616
NM_054027.6(ANKH):c.*2119C>T rs150130025 0.01502
NM_054027.6(ANKH):c.*3628T>C rs141052195 0.01460
NM_054027.6(ANKH):c.*3420T>C rs79059123 0.01452
NM_054027.6(ANKH):c.*580C>T rs192753009 0.01397
NM_054027.6(ANKH):c.*283C>T rs36072175 0.01320
NM_054027.6(ANKH):c.*4251T>C rs77573132 0.01317
NM_054027.6(ANKH):c.*925T>C rs115929672 0.01275
NM_054027.6(ANKH):c.*4624A>C rs78550928 0.01160
NM_054027.6(ANKH):c.*3543G>T rs114164305 0.01111
NM_054027.6(ANKH):c.*5759G>C rs116362523 0.01091
NM_054027.6(ANKH):c.*6226G>A rs116590750 0.01087
NM_054027.6(ANKH):c.*4513G>A rs148211290 0.00949
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_054027.6(ANKH):c.*5895C>A rs141264056 0.00653
NM_054027.6(ANKH):c.*3900T>C rs76635089 0.00632
NM_054027.6(ANKH):c.*724A>C rs141576604 0.00627
NM_054027.6(ANKH):c.*6386G>C rs145195435 0.00582
NM_054027.6(ANKH):c.*6163A>G rs182300014 0.00411
NM_054027.6(ANKH):c.*1008C>G rs143400303 0.00394
NM_054027.6(ANKH):c.*5662C>T rs190396675 0.00384
NM_054027.6(ANKH):c.*1814G>A rs183138464 0.00367
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_054027.6(ANKH):c.*2543G>C rs143619241 0.00325
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002 0.00309
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972 0.00304
NM_054027.6(ANKH):c.*5518C>T rs143143398 0.00280
NM_054027.6(ANKH):c.*831T>C rs182130104 0.00267
NM_054027.6(ANKH):c.*52G>A rs369937597 0.00200
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00168
NM_054027.6(ANKH):c.*1988C>G rs552146695 0.00167
NM_054027.6(ANKH):c.*3962T>C rs528418242 0.00159
NM_054027.6(ANKH):c.*3616C>T rs550672520 0.00158
NM_054027.6(ANKH):c.*2699G>C rs569690245 0.00145
NM_054027.6(ANKH):c.*2714T>C rs141202503 0.00086
NM_054027.6(ANKH):c.*5459C>T rs79739542 0.00083
NM_054027.6(ANKH):c.*11G>A rs111369645 0.00081
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00078
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394 0.00074
NM_054027.6(ANKH):c.*1711C>A rs75139257 0.00066
NM_054027.6(ANKH):c.*3627G>A rs149815187 0.00066
NM_054027.6(ANKH):c.*2392G>T rs185488764 0.00059
NM_054027.6(ANKH):c.*349A>G rs146084864 0.00059
NM_054027.6(ANKH):c.*6012T>C rs576051028 0.00056
NM_054027.6(ANKH):c.*1646A>G rs564365629 0.00052
NM_054027.6(ANKH):c.*706C>T rs150916853 0.00051
NM_054027.6(ANKH):c.*2200T>C rs191334359 0.00046
NM_054027.6(ANKH):c.*2243C>T rs531980160 0.00045
NM_054027.6(ANKH):c.*1626G>A rs760609731 0.00041
NM_054027.6(ANKH):c.*4351C>T rs141209810 0.00041
NM_054027.6(ANKH):c.*4103G>A rs181397772 0.00038
NM_054027.6(ANKH):c.*3554C>T rs185233583 0.00036
NM_054027.6(ANKH):c.*4958T>C rs187771198 0.00036
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_054027.6(ANKH):c.*405G>A rs557668196 0.00029
NM_054027.6(ANKH):c.*819T>G rs186783503 0.00029
NM_054027.6(ANKH):c.*840G>C rs568699300 0.00029
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) rs199664007 0.00029
NM_054027.6(ANKH):c.*3172A>G rs933543701 0.00021
NM_054027.6(ANKH):c.*6235G>A rs546234916 0.00019
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_054027.6(ANKH):c.*5768T>C rs145549693 0.00015
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00014
NM_054027.6(ANKH):c.*3386G>A rs368727070 0.00013
NM_054027.6(ANKH):c.*4250T>C rs776929735 0.00013
NM_054027.6(ANKH):c.*5900T>C rs943784205 0.00013
NM_054027.6(ANKH):c.*6034A>C rs886060067 0.00013
NM_054027.6(ANKH):c.*6205G>A rs886060065 0.00013
NM_054027.6(ANKH):c.*3548G>A rs539426552 0.00012
NM_054027.6(ANKH):c.*433G>A rs189866379 0.00012
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00012
NM_054027.6(ANKH):c.*2017G>A rs759890855 0.00011
NM_054027.6(ANKH):c.*3752G>A rs896227717 0.00011
NM_054027.6(ANKH):c.*5912T>A rs886060068 0.00011
NM_054027.6(ANKH):c.*2236G>A rs201439698 0.00010
NM_054027.6(ANKH):c.*1754G>A rs971385670 0.00009
NM_054027.6(ANKH):c.*5930C>T rs747178382 0.00009
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009
NM_054027.6(ANKH):c.1365+13C>T rs377704922 0.00009
NM_054027.6(ANKH):c.*793A>G rs377136068 0.00007
NM_054027.6(ANKH):c.*1081C>T rs886060083 0.00006
NM_054027.6(ANKH):c.*1270A>C rs187733448 0.00006
NM_054027.6(ANKH):c.*2262G>T rs537181523 0.00006
NM_054027.6(ANKH):c.*3562G>T rs917646845 0.00006
NM_054027.6(ANKH):c.*5899A>G rs976896150 0.00006
NM_054027.6(ANKH):c.*2393A>T rs963039838 0.00005
NM_054027.6(ANKH):c.*4635A>C rs1036873430 0.00005
NM_054027.6(ANKH):c.*6129G>A rs757736999 0.00005
NM_054027.6(ANKH):c.*914A>C rs556791755 0.00005
NM_054027.6(ANKH):c.*999T>C rs957305303 0.00005
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00005
NM_054027.6(ANKH):c.*309G>C rs530153364 0.00004
NM_054027.6(ANKH):c.*4982T>C rs901092803 0.00004
NM_054027.6(ANKH):c.*833T>C rs995943291 0.00004
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416 0.00004
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00004
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_054027.6(ANKH):c.*2694T>C rs886060075 0.00003
NM_054027.6(ANKH):c.*2770C>T rs563898623 0.00003
NM_054027.6(ANKH):c.*5887G>C rs1054439108 0.00003
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_054027.6(ANKH):c.*1490T>C rs776755741 0.00002
NM_054027.6(ANKH):c.*1772C>T rs775380495 0.00002
NM_054027.6(ANKH):c.*3567G>C rs144789671 0.00002
NM_054027.6(ANKH):c.*4137G>C rs886060072 0.00002
NM_054027.6(ANKH):c.*5579G>A rs1200080153 0.00002
NM_054027.6(ANKH):c.*6006A>T rs1373491504 0.00002
NM_054027.6(ANKH):c.*781T>A rs886060086 0.00002
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) rs761349696 0.00002
NM_054027.6(ANKH):c.1365+9G>A rs771866688 0.00002
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_054027.6(ANKH):c.*1058C>T rs886060084 0.00001
NM_054027.6(ANKH):c.*1137A>C rs1451711728 0.00001
NM_054027.6(ANKH):c.*1451T>C rs1224951926 0.00001
NM_054027.6(ANKH):c.*1470G>A rs1161044546 0.00001
NM_054027.6(ANKH):c.*147T>A rs377727408 0.00001
NM_054027.6(ANKH):c.*1894T>C rs1017314538 0.00001
NM_054027.6(ANKH):c.*2428G>C rs886060077 0.00001
NM_054027.6(ANKH):c.*2511C>T rs575930682 0.00001
NM_054027.6(ANKH):c.*2644G>C rs886060076 0.00001
NM_054027.6(ANKH):c.*2959T>C rs919414377 0.00001
NM_054027.6(ANKH):c.*30C>T rs772604835 0.00001
NM_054027.6(ANKH):c.*3559G>C rs886060074 0.00001
NM_054027.6(ANKH):c.*3698T>A rs563873078 0.00001
NM_054027.6(ANKH):c.*5062A>G rs937136472 0.00001
NM_054027.6(ANKH):c.*5725G>T rs187007081 0.00001
NM_054027.6(ANKH):c.*5906T>C rs1423821590 0.00001
NM_054027.6(ANKH):c.*6041T>C rs886060066 0.00001
NM_054027.6(ANKH):c.*700G>A rs765103863 0.00001
NM_054027.6(ANKH):c.*96T>C rs1561015789 0.00001
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732 0.00001
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) rs761698657 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_054027.6(ANKH):c.*1192G>C rs138050705
NM_054027.6(ANKH):c.*1354A>G rs886060080
NM_054027.6(ANKH):c.*1370C>G rs191464917
NM_054027.6(ANKH):c.*1372C>A rs1054095058
NM_054027.6(ANKH):c.*1423G>A rs572785716
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1753C>T rs1329037667
NM_054027.6(ANKH):c.*256G>A rs1265113554
NM_054027.6(ANKH):c.*2674C>A rs535920930
NM_054027.6(ANKH):c.*2674C>G rs535920930
NM_054027.6(ANKH):c.*3133C>A rs1007599533
NM_054027.6(ANKH):c.*3224T>C rs999138468
NM_054027.6(ANKH):c.*3359T>G rs1736999591
NM_054027.6(ANKH):c.*3509G>C rs1006427637
NM_054027.6(ANKH):c.*3664C>T rs886060073
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*4610C>A rs1050130499
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4777C>A rs991205856
NM_054027.6(ANKH):c.*4811A>G rs1736946428
NM_054027.6(ANKH):c.*5593G>C rs886060070
NM_054027.6(ANKH):c.*5895C>G rs141264056
NM_054027.6(ANKH):c.*5898G>A rs886060069
NM_054027.6(ANKH):c.*5980C>A rs943017719
NM_054027.6(ANKH):c.*6368G>A rs1238103899
NM_054027.6(ANKH):c.*643T>C rs886060087
NM_054027.6(ANKH):c.*712G>C rs370243294
NM_054027.6(ANKH):c.*921A>G rs886060085
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689

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