ClinVar Miner

List of variants reported as benign for arthritic joint disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99333
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94400
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87139
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 0.07805
NM_054027.6(ANKH):c.*3900T>C rs76635089 0.07383
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06365
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 0.02473
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02411
NM_054027.6(ANKH):c.*4182T>G rs13358074 0.02029
NM_054027.6(ANKH):c.*4244T>A rs137905502 0.01922
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01519
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.*925T>C rs115929672 0.01275
NM_054027.6(ANKH):c.*4251T>C rs77573132 0.01240
NM_054027.6(ANKH):c.*5759G>C rs116362523 0.01091
NM_054027.6(ANKH):c.*4624A>C rs78550928 0.01077
NM_054027.6(ANKH):c.*3543G>T rs114164305 0.01031
NM_054027.6(ANKH):c.*6226G>A rs116590750 0.01009
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 0.00836
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00775
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00684
NM_054027.6(ANKH):c.*5895C>A rs141264056 0.00653
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 0.00395
NM_054027.6(ANKH):c.*5662C>T rs190396675 0.00384
NM_054027.6(ANKH):c.*1008C>G rs143400303 0.00372
NM_054027.6(ANKH):c.*1814G>A rs183138464 0.00367
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00334
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972 0.00304
NM_054027.6(ANKH):c.*2543G>C rs143619241 0.00297
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002 0.00289
NM_054027.6(ANKH):c.*5518C>T rs143143398 0.00280
NM_054027.6(ANKH):c.*831T>C rs182130104 0.00263
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 0.00167
NM_054027.6(ANKH):c.*1988C>G rs552146695 0.00162
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00152
NM_054027.6(ANKH):c.*2699G>C rs569690245 0.00151
NM_054027.6(ANKH):c.*2714T>C rs141202503 0.00109
NM_054027.6(ANKH):c.*712G>C rs370243294 0.00085
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.681G>A (p.Glu227=) rs144687394 0.00074
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00072
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 0.00056
NM_054027.6(ANKH):c.*2200T>C rs191334359 0.00046
NM_054027.6(ANKH):c.*706C>T rs150916853 0.00046
NM_054027.6(ANKH):c.*4351C>T rs141209810 0.00041
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00035
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00033
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
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.*5768T>C rs145549693 0.00020
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_054027.6(ANKH):c.*433G>A rs189866379 0.00013
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00013
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.*2262G>T rs537181523 0.00006
NM_054027.6(ANKH):c.*914A>C rs556791755 0.00005
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00005
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416 0.00004
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732 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.*2511C>T rs575930682 0.00001
NM_054027.6(ANKH):c.*3698T>A rs563873078 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.*1192G>C rs138050705
NM_054027.6(ANKH):c.*1893dup rs34294961
NM_054027.6(ANKH):c.*2301dup rs796083754
NM_054027.6(ANKH):c.*3900del rs34717032
NM_054027.6(ANKH):c.*3928_*3929del rs527918862
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*5281del rs34917282
NM_054027.6(ANKH):c.*939_*942dup rs71603731
NM_054027.6(ANKH):c.-80GTCGCCCC[1] rs139106733

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