ClinVar Miner

List of variants reported as benign for osteosclerosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99568
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94776
NM_001287.6(CLCN7):c.*1389A>C rs710900 0.90699
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87166
NM_001287.6(CLCN7):c.*887C>T rs6600146 0.85737
NM_001287.6(CLCN7):c.*886C>T rs1050834 0.85735
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_001287.6(CLCN7):c.*1626G>C rs8767 0.60777
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.*735C>T rs2294542 0.51156
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_001287.6(CLCN7):c.*1332C>T rs941439 0.37181
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.35209
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_001287.6(CLCN7):c.660C>T (p.His220=) rs12923538 0.14578
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_001287.6(CLCN7):c.485-10T>C rs35280276 0.13624
NM_001287.6(CLCN7):c.*627A>G rs10903009 0.12292
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_001287.6(CLCN7):c.*19A>G rs11860968 0.11981
NM_001287.6(CLCN7):c.1798-8G>A rs35915213 0.10339
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=) rs12926669 0.09695
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_001287.6(CLCN7):c.1128G>A (p.Pro376=) rs12935737 0.06897
NM_001287.6(CLCN7):c.1614G>A (p.Ala538=) rs117461525 0.06889
NM_001287.6(CLCN7):c.*1157C>T rs9921 0.06755
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_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_054027.6(ANKH):c.*3899T>C rs559763037 0.04947
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_001287.6(CLCN7):c.1798-10C>T rs35939214 0.03622
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_001287.6(CLCN7):c.*1176C>T rs150325021 0.03316
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_001287.6(CLCN7):c.*990C>T rs114884549 0.03040
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_054027.6(ANKH):c.*4672G>A rs61502042 0.02679
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02462
NM_001287.6(CLCN7):c.-20G>C rs112055095 0.02459
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_054027.6(ANKH):c.*4182T>G rs13358074 0.02029
NM_054027.6(ANKH):c.*4244T>A rs137905502 0.01911
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_001287.6(CLCN7):c.801G>A (p.Thr267=) rs61743590 0.01670
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01616
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
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_001287.6(CLCN7):c.921G>A (p.Gly307=) rs114169064 0.01310
NM_054027.6(ANKH):c.*925T>C rs115929672 0.01275
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_054027.6(ANKH):c.*4624A>C rs78550928 0.01160
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
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_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_001287.6(CLCN7):c.696C>T (p.Ser232=) rs117183989 0.01006
NM_054027.6(ANKH):c.*4513G>A rs148211290 0.00949
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_001287.6(CLCN7):c.*496T>C rs60516531 0.00800
NM_001287.6(CLCN7):c.*1645G>C rs74002247 0.00770
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_054027.6(ANKH):c.*5895C>A rs141264056 0.00653
NM_054027.6(ANKH):c.*3900T>C rs76635089 0.00632
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_054027.6(ANKH):c.*724A>C rs141576604 0.00627
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_001287.6(CLCN7):c.1617+13G>A rs58998621 0.00586
NM_054027.6(ANKH):c.*6386G>C rs145195435 0.00582
NM_001287.6(CLCN7):c.*530G>A rs188481235 0.00519
NM_001287.6(CLCN7):c.1961C>T (p.Thr654Met) rs114827619 0.00491
NM_001287.6(CLCN7):c.675+10C>T rs116495246 0.00471
NM_001287.6(CLCN7):c.-32G>A rs141324197 0.00462
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_001287.6(CLCN7):c.1626G>T (p.Ala542=) rs147838517 0.00437
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_001287.6(CLCN7):c.1857G>A (p.Pro619=) rs139826207 0.00342
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_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
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.*2699G>C rs569690245 0.00145
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_001287.6(CLCN7):c.*262G>A rs572569244 0.00107
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
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.*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_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
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.*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.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.*433G>A rs189866379 0.00012
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00012
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.1012-11T>G rs576472902 0.00005
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.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) rs761349696 0.00002
NM_054027.6(ANKH):c.1365+9G>A rs771866688 0.00002
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
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.1278G>A (p.Ala426=) rs568804732 0.00001
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) rs761698657 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_014028.4(OSTM1):c.*1441del rs140320992
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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