ClinVar Miner

List of variants reported as benign for bone inflammation disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
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_001375808.2(LPIN2):c.*685T>A rs607549 0.71526
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_001375808.2(LPIN2):c.*2934C>T rs7980 0.50276
NM_173842.3(IL1RN):c.390T>C (p.Ser130=) rs315952 0.34551
NM_173842.3(IL1RN):c.*138C>G rs315951 0.34373
NM_173842.3(IL1RN):c.*964G>A rs9005 0.28345
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_001375808.2(LPIN2):c.*3068A>T rs1985 0.24248
NM_173842.3(IL1RN):c.171T>C (p.Ala57=) rs419598 0.21244
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_173841.3(IL1RN):c.73+8A>C rs878972 0.20572
NM_173841.3(IL1RN):c.-12G>C rs2234679 0.20534
NM_173841.3(IL1RN):c.-31A>G rs2234678 0.20530
NM_001375808.2(LPIN2):c.*3139A>G rs1164 0.18839
NM_001375808.2(LPIN2):c.*657A>C rs16944040 0.16453
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_001375808.2(LPIN2):c.*2493C>G rs8091401 0.08828
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_001375808.2(LPIN2):c.*1052T>C rs59566682 0.06708
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06312
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
NM_001375808.2(LPIN2):c.*501T>C rs35176958 0.05856
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_054027.6(ANKH):c.*3899T>C rs559763037 0.04947
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_001375808.2(LPIN2):c.*2923C>T rs202079191 0.04421
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_001375808.2(LPIN2):c.*2946G>A rs4781 0.03480
NM_001375808.2(LPIN2):c.*557G>A rs112795993 0.03331
NM_001375808.2(LPIN2):c.-10+1342C>G rs59096963 0.03286
NM_001375808.2(LPIN2):c.-10+1343C>G rs58940048 0.03285
NM_001375808.2(LPIN2):c.*2241T>C rs16944033 0.03080
NM_054027.6(ANKH):c.*4672G>A rs61502042 0.02679
NM_173842.3(IL1RN):c.*162C>T rs4252041 0.02647
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
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_001375808.2(LPIN2):c.*950A>C rs3810065 0.01773
NM_173842.3(IL1RN):c.*311G>A rs4252028 0.01661
NM_054027.6(ANKH):c.1265+6T>C rs114529889 0.01616
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_001375808.2(LPIN2):c.*1502G>A rs113346639 0.01434
NM_001375808.2(LPIN2):c.*99C>T rs143728428 0.01403
NM_054027.6(ANKH):c.*580C>T rs192753009 0.01397
NM_173842.3(IL1RN):c.116+5G>A rs4252004 0.01392
NM_173842.3(IL1RN):c.*537G>A rs41294742 0.01363
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
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_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
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.405C>T (p.Leu135=) rs149656955 0.00943
NM_001375808.2(LPIN2):c.*2822C>T rs73375246 0.00916
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_001375808.2(LPIN2):c.*1691A>G rs112588494 0.00863
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
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_000088.4(COL1A1):c.*1175T>G rs75713851 0.00595
NM_054027.6(ANKH):c.*6386G>C rs145195435 0.00582
NM_001375808.2(LPIN2):c.*3015T>C rs14916 0.00541
NM_001375808.2(LPIN2):c.*1622T>C rs111366726 0.00538
NM_001375808.2(LPIN2):c.*1082G>A rs149858117 0.00508
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_173842.3(IL1RN):c.465C>T (p.Pro155=) rs2232355 0.00435
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.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_054027.6(ANKH):c.*52G>A rs369937597 0.00200
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_001375808.2(LPIN2):c.*797T>G rs3810064 0.00180
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_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) rs45507693 0.00097
NM_001375808.2(LPIN2):c.*699A>G rs145046223 0.00092
NM_054027.6(ANKH):c.*2714T>C rs141202503 0.00086
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
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_001375808.2(LPIN2):c.*637G>A rs118142692 0.00058
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.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.*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_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
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_173842.3(IL1RN):c.*958C>T rs370000982 0.00004
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.1278G>A (p.Ala426=) rs568804732 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_001375808.2(LPIN2):c.*723A>G rs76325993
NM_001375808.2(LPIN2):c.*947dup rs3840906
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.*712G>C rs370243294
NM_054027.6(ANKH):c.*939_*942dup rs71603731
NM_054027.6(ANKH):c.-80GTCGCCCC[1] rs139106733
NM_173841.2(IL1RN):c.-87G>A rs2234677

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