ClinVar Miner

List of variants in gene combination ANKH, OTULIN reported as benign for Chondrocalcinosis 2

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 62
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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.*31A>G rs3045 0.09134
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
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.*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.*4219T>C rs147322366 0.00820
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.*2543G>C rs143619241 0.00325
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.*1988C>G rs552146695 0.00167
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.*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.*706C>T rs150916853 0.00051
NM_054027.6(ANKH):c.*2200T>C rs191334359 0.00046
NM_054027.6(ANKH):c.*4351C>T rs141209810 0.00041
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.*5768T>C rs145549693 0.00015
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.*2262G>T rs537181523 0.00006
NM_054027.6(ANKH):c.*914A>C rs556791755 0.00005
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.*1192G>C rs138050705
NM_054027.6(ANKH):c.*4268C>A rs150706862
NM_054027.6(ANKH):c.*712G>C rs370243294

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