ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
Download table as spreadsheet
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.*1137A>C
NM_054027.6(ANKH):c.*1192G>C
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.*1372C>A
NM_054027.6(ANKH):c.*1423G>A
NM_054027.6(ANKH):c.*1451T>C
NM_054027.6(ANKH):c.*1470G>A
NM_054027.6(ANKH):c.*147T>A
NM_054027.6(ANKH):c.*1490T>C
NM_054027.6(ANKH):c.*1626G>A rs760609731
NM_054027.6(ANKH):c.*1646A>G
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1711C>A rs75139257
NM_054027.6(ANKH):c.*1753C>T
NM_054027.6(ANKH):c.*1754G>A
NM_054027.6(ANKH):c.*1772C>T
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.*1894T>C
NM_054027.6(ANKH):c.*1948_*1949del rs527743958
NM_054027.6(ANKH):c.*1988C>G
NM_054027.6(ANKH):c.*2017G>A
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.*2262G>T
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.*2393A>T
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.*256G>A
NM_054027.6(ANKH):c.*2644G>C rs886060076
NM_054027.6(ANKH):c.*2674C>A
NM_054027.6(ANKH):c.*2674C>G
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.*2959T>C
NM_054027.6(ANKH):c.*2974G>A rs182073449
NM_054027.6(ANKH):c.*309G>C
NM_054027.6(ANKH):c.*30C>T
NM_054027.6(ANKH):c.*3133C>A
NM_054027.6(ANKH):c.*3172A>G
NM_054027.6(ANKH):c.*31A>G rs3045
NM_054027.6(ANKH):c.*3224T>C
NM_054027.6(ANKH):c.*3336_*3339del rs377752827
NM_054027.6(ANKH):c.*3359T>G
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.*3509G>C
NM_054027.6(ANKH):c.*3543G>T
NM_054027.6(ANKH):c.*3548G>A rs539426552
NM_054027.6(ANKH):c.*3554C>T
NM_054027.6(ANKH):c.*3559G>C rs886060074
NM_054027.6(ANKH):c.*3562G>T
NM_054027.6(ANKH):c.*3567G>C
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.*3752G>A
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.*4351C>T
NM_054027.6(ANKH):c.*4428T>C
NM_054027.6(ANKH):c.*4513G>A rs148211290
NM_054027.6(ANKH):c.*4610C>A
NM_054027.6(ANKH):c.*4624A>C rs78550928
NM_054027.6(ANKH):c.*4635A>C
NM_054027.6(ANKH):c.*4672G>A rs61502042
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4777C>A
NM_054027.6(ANKH):c.*4811A>G
NM_054027.6(ANKH):c.*4958T>C rs187771198
NM_054027.6(ANKH):c.*4982T>C
NM_054027.6(ANKH):c.*5034del rs541644826
NM_054027.6(ANKH):c.*5062A>G
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.*5518C>T
NM_054027.6(ANKH):c.*5579G>A
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.*5759G>C
NM_054027.6(ANKH):c.*5768T>C rs145549693
NM_054027.6(ANKH):c.*580C>T rs192753009
NM_054027.6(ANKH):c.*5887G>C
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.*5899A>G
NM_054027.6(ANKH):c.*5900T>C
NM_054027.6(ANKH):c.*5906T>C
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.*5930C>T
NM_054027.6(ANKH):c.*5980C>A
NM_054027.6(ANKH):c.*6006A>T
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.*6226G>A
NM_054027.6(ANKH):c.*6235G>A
NM_054027.6(ANKH):c.*6368G>A
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.*700G>A
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.*819T>G
NM_054027.6(ANKH):c.*831T>C rs182130104
NM_054027.6(ANKH):c.*833T>C
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.*96T>C
NM_054027.6(ANKH):c.*999T>C
NM_054027.6(ANKH):c.-128_-80delinsCGC rs886060203
NM_054027.6(ANKH):c.-252C>T
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.1000C>G (p.Leu334Val)
NM_054027.6(ANKH):c.1011+15T>G rs187483
NM_054027.6(ANKH):c.1012-11T>G rs576472902
NM_054027.6(ANKH):c.1021G>A (p.Val341Met)
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.1141+5A>G rs187972211
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.1304C>T (p.Ala435Val)
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.1357C>T (p.Arg453Trp)
NM_054027.6(ANKH):c.1365+13C>T
NM_054027.6(ANKH):c.1365+9G>A
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) rs143550972
NM_054027.6(ANKH):c.156C>T (p.Tyr52=)
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706
NM_054027.6(ANKH):c.282G>A (p.Gly94=)
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.369G>A (p.Ser123=) rs145463643
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.600C>T (p.Gly200=)
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394
NM_054027.6(ANKH):c.688-14G>A rs187770990
NM_054027.6(ANKH):c.897G>A (p.Val299=)
NM_054027.6(ANKH):c.915+14C>T
NM_054027.6(ANKH):c.937G>A (p.Val313Met)
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474
NM_054027.6(ANKH):c.97-9C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.