ClinVar Miner

List of variants studied for chondrocalcinosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NM_054027.6(ANKH):c.*1008C>G rs143400303
NM_054027.6(ANKH):c.*1058C>T rs886060084
NM_054027.6(ANKH):c.*1081C>T rs886060083
NM_054027.6(ANKH):c.*11G>A rs111369645
NM_054027.6(ANKH):c.*1211del rs886060082
NM_054027.6(ANKH):c.*1270A>C rs187733448
NM_054027.6(ANKH):c.*1271A>C rs25990
NM_054027.6(ANKH):c.*1318_*1321ATTT[1] rs886060081
NM_054027.6(ANKH):c.*1354A>G rs886060080
NM_054027.6(ANKH):c.*1370C>G rs191464917
NM_054027.6(ANKH):c.*1626G>A rs760609731
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1711C>A rs75139257
NM_054027.6(ANKH):c.*1814G>A rs183138464
NM_054027.6(ANKH):c.*1887dup rs201158874
NM_054027.6(ANKH):c.*1893dup rs34294961
NM_054027.6(ANKH):c.*1948_*1949del rs527743958
NM_054027.6(ANKH):c.*2107A>G rs25991
NM_054027.6(ANKH):c.*2113del rs753413461
NM_054027.6(ANKH):c.*2119C>T rs150130025
NM_054027.6(ANKH):c.*2200T>C rs191334359
NM_054027.6(ANKH):c.*2236G>A rs201439698
NM_054027.6(ANKH):c.*2243C>G rs531980160
NM_054027.6(ANKH):c.*2243C>T rs531980160
NM_054027.6(ANKH):c.*2301del rs796083754
NM_054027.6(ANKH):c.*2301dup rs796083754
NM_054027.6(ANKH):c.*2392G>T rs185488764
NM_054027.6(ANKH):c.*2428G>C rs886060077
NM_054027.6(ANKH):c.*2511C>T rs575930682
NM_054027.6(ANKH):c.*2543G>C rs143619241
NM_054027.6(ANKH):c.*2644G>C rs886060076
NM_054027.6(ANKH):c.*2694T>C rs886060075
NM_054027.6(ANKH):c.*2699G>C rs569690245
NM_054027.6(ANKH):c.*2714T>C rs141202503
NM_054027.6(ANKH):c.*2770C>T rs563898623
NM_054027.6(ANKH):c.*283C>T rs36072175
NM_054027.6(ANKH):c.*2974G>A rs182073449
NM_054027.6(ANKH):c.*31A>G rs3045
NM_054027.6(ANKH):c.*3336_*3339del rs377752827
NM_054027.6(ANKH):c.*3386G>A rs368727070
NM_054027.6(ANKH):c.*3420T>C rs79059123
NM_054027.6(ANKH):c.*349A>G rs146084864
NM_054027.6(ANKH):c.*3548G>A rs539426552
NM_054027.6(ANKH):c.*3559G>C rs886060074
NM_054027.6(ANKH):c.*3616C>T rs550672520
NM_054027.6(ANKH):c.*3627G>A rs149815187
NM_054027.6(ANKH):c.*3628T>C rs141052195
NM_054027.6(ANKH):c.*3664C>T rs886060073
NM_054027.6(ANKH):c.*3698T>A rs563873078
NM_054027.6(ANKH):c.*3706G>A rs25992
NM_054027.6(ANKH):c.*3899T>C rs559763037
NM_054027.6(ANKH):c.*3900T>C rs76635089
NM_054027.6(ANKH):c.*3900del rs34717032
NM_054027.6(ANKH):c.*3928C>T rs27911
NM_054027.6(ANKH):c.*3928_*3929del rs527918862
NM_054027.6(ANKH):c.*3962T>C rs528418242
NM_054027.6(ANKH):c.*405G>A rs557668196
NM_054027.6(ANKH):c.*4103G>A rs181397772
NM_054027.6(ANKH):c.*4137G>C rs886060072
NM_054027.6(ANKH):c.*416_*419dup rs142033023
NM_054027.6(ANKH):c.*4182T>G rs13358074
NM_054027.6(ANKH):c.*4219T>C rs147322366
NM_054027.6(ANKH):c.*4244T>A rs137905502
NM_054027.6(ANKH):c.*4250T>C rs776929735
NM_054027.6(ANKH):c.*4251T>C rs77573132
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*433G>A rs189866379
NM_054027.6(ANKH):c.*4513G>A rs148211290
NM_054027.6(ANKH):c.*4624A>C rs78550928
NM_054027.6(ANKH):c.*4672G>A rs61502042
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4958T>C rs187771198
NM_054027.6(ANKH):c.*5034del rs541644826
NM_054027.6(ANKH):c.*510C>T rs17364066
NM_054027.6(ANKH):c.*5136del rs577325072
NM_054027.6(ANKH):c.*5281del rs34917282
NM_054027.6(ANKH):c.*52G>A rs369937597
NM_054027.6(ANKH):c.*5459C>T rs79739542
NM_054027.6(ANKH):c.*5593G>C rs886060070
NM_054027.6(ANKH):c.*561C>T rs116140147
NM_054027.6(ANKH):c.*5641A>G rs26307
NM_054027.6(ANKH):c.*5662C>T rs190396675
NM_054027.6(ANKH):c.*5725G>T rs187007081
NM_054027.6(ANKH):c.*5768T>C rs145549693
NM_054027.6(ANKH):c.*580C>T rs192753009
NM_054027.6(ANKH):c.*5895C>A rs141264056
NM_054027.6(ANKH):c.*5895C>G rs141264056
NM_054027.6(ANKH):c.*5898G>A rs886060069
NM_054027.6(ANKH):c.*5912T>A rs886060068
NM_054027.6(ANKH):c.*5912del rs765143871
NM_054027.6(ANKH):c.*5912dup rs765143871
NM_054027.6(ANKH):c.*6012T>C rs576051028
NM_054027.6(ANKH):c.*6034A>C rs886060067
NM_054027.6(ANKH):c.*6041T>C rs886060066
NM_054027.6(ANKH):c.*6129G>A rs757736999
NM_054027.6(ANKH):c.*6163A>G rs182300014
NM_054027.6(ANKH):c.*6205G>A rs886060065
NM_054027.6(ANKH):c.*6386G>C rs145195435
NM_054027.6(ANKH):c.*643T>C rs886060087
NM_054027.6(ANKH):c.*695_*698dup rs555469650
NM_054027.6(ANKH):c.*706C>T rs150916853
NM_054027.6(ANKH):c.*712G>C rs370243294
NM_054027.6(ANKH):c.*724A>C rs141576604
NM_054027.6(ANKH):c.*781T>A rs886060086
NM_054027.6(ANKH):c.*793A>G rs377136068
NM_054027.6(ANKH):c.*831T>C rs182130104
NM_054027.6(ANKH):c.*840G>C rs568699300
NM_054027.6(ANKH):c.*914A>C rs556791755
NM_054027.6(ANKH):c.*921A>G rs886060085
NM_054027.6(ANKH):c.*925T>C rs115929672
NM_054027.6(ANKH):c.*939_*942dup rs71603731
NM_054027.6(ANKH):c.-128_-80delinsCGC rs886060203
NM_054027.6(ANKH):c.-291_-289CCG[5] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[6] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[8] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[9] rs531421951
NM_054027.6(ANKH):c.-4G>A rs78431233
NM_054027.6(ANKH):c.-80_-73GTCGCCCC[1] rs139106733
NM_054027.6(ANKH):c.-80_-79insC rs886060201
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.-89_-80delinsTC rs886060202
NM_054027.6(ANKH):c.1011+15T>G rs187483
NM_054027.6(ANKH):c.1012-11T>G rs576472902
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380
NM_054027.6(ANKH):c.1265+6T>C rs114529889
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667
NM_054027.6(ANKH):c.313+12G>A rs769050375
NM_054027.6(ANKH):c.313+9G>A rs73048890
NM_054027.6(ANKH):c.314-13C>T rs201856062
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955
NM_054027.6(ANKH):c.432+13G>A rs112742497
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394
NM_054027.6(ANKH):c.688-14G>A rs187770990
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474

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