ClinVar Miner

List of variants in gene AGPS studied for rhizomelic chondrodysplasia punctata

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.1362+79G>A rs12468046 0.87026
NM_003659.4(AGPS):c.442-64C>T rs3754989 0.85863
NM_003659.4(AGPS):c.*1866A>G rs10930795 0.83889
NM_003659.4(AGPS):c.*4253C>A rs10803912 0.83746
NM_003659.4(AGPS):c.*4974T>C rs2293475 0.83675
NM_003659.4(AGPS):c.*3558C>T rs8941 0.72163
NM_003659.4(AGPS):c.1608-95T>A rs2364854 0.57249
NM_003659.4(AGPS):c.*4516_*4517del rs3215354 0.11154
NM_003659.4(AGPS):c.*1866_*1867del rs761041008 0.11055
NM_003659.4(AGPS):c.1856-16G>T rs3213945 0.08514
NM_003659.4(AGPS):c.*4821C>T rs28576781 0.03281
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_003659.4(AGPS):c.*2636G>C rs77450843 0.02159
NM_003659.4(AGPS):c.*4618A>G rs75827012 0.02017
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_003659.4(AGPS):c.*552T>G rs115060780 0.01756
NM_003659.4(AGPS):c.*1106A>T rs116688077 0.01515
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_003659.4(AGPS):c.1704G>A (p.Thr568=) rs36052691 0.00710
NM_003659.4(AGPS):c.*3894A>G rs74988186 0.00708
NM_003659.4(AGPS):c.*1719G>A rs182366015 0.00706
NM_003659.4(AGPS):c.*1364A>G rs144780787 0.00608
NM_003659.4(AGPS):c.*3971A>G rs150179488 0.00605
NM_003659.4(AGPS):c.*4098C>T rs115549933 0.00496
NM_003659.4(AGPS):c.*1884A>G rs886055190 0.00467
NM_003659.4(AGPS):c.*3381G>A rs190466352 0.00412
NM_003659.4(AGPS):c.*2091T>C rs16865338 0.00368
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_003659.4(AGPS):c.*4232A>G rs145593745 0.00314
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_003659.4(AGPS):c.*5609G>A rs191948308 0.00267
NM_003659.4(AGPS):c.*4780G>A rs542429122 0.00264
NM_003659.4(AGPS):c.*2548A>G rs76966937 0.00233
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_003659.4(AGPS):c.*206T>C rs74536999 0.00171
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_003659.4(AGPS):c.*4996C>T rs183868732 0.00149
NM_003659.4(AGPS):c.*731A>G rs185715744 0.00119
NM_003659.4(AGPS):c.*4132A>G rs544412431 0.00098
NM_003659.4(AGPS):c.*1858A>G rs868072755 0.00096
NM_003659.4(AGPS):c.*3931A>G rs190151334 0.00077
NM_003659.4(AGPS):c.*921A>G rs555058166 0.00072
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.*3045C>T rs147676340 0.00071
NM_003659.4(AGPS):c.*865A>G rs2293470 0.00066
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_003659.4(AGPS):c.*2437A>G rs561448661 0.00059
NM_003659.4(AGPS):c.*3262C>A rs115216884 0.00058
NM_003659.4(AGPS):c.*2833G>T rs563411002 0.00041
NM_003659.4(AGPS):c.*469A>T rs3171913 0.00041
NM_003659.4(AGPS):c.*5453C>T rs560420420 0.00038
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_003659.4(AGPS):c.*2730G>A rs557473958 0.00032
NM_003659.4(AGPS):c.*428C>T rs574178840 0.00032
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_003659.4(AGPS):c.*2455C>T rs376557428 0.00027
NM_003659.4(AGPS):c.*683A>G rs749195776 0.00027
NM_003659.4(AGPS):c.*378G>A rs886055170 0.00026
NM_003659.4(AGPS):c.*5465C>T rs886055199 0.00024
NM_003659.4(AGPS):c.*2621C>T rs550196684 0.00021
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_003659.4(AGPS):c.*4885A>G rs886055196 0.00019
NM_003659.4(AGPS):c.*1744A>G rs540754346 0.00018
NM_003659.4(AGPS):c.*4100A>G rs187827630 0.00016
NM_003659.4(AGPS):c.*3606A>G rs370112990 0.00011
NM_003659.4(AGPS):c.*823T>A rs187354423 0.00011
NM_003659.4(AGPS):c.*4056T>C rs377375306 0.00010
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_003659.4(AGPS):c.*1865C>T rs62182698 0.00009
NM_003659.4(AGPS):c.*560T>A rs867873949 0.00009
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_003659.4(AGPS):c.*1238T>C rs899137263 0.00008
NM_003659.4(AGPS):c.1475+12A>G rs375684020 0.00008
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_003659.4(AGPS):c.*1105T>A rs188611962 0.00007
NM_003659.4(AGPS):c.*4674A>G rs1046647430 0.00007
NM_003659.4(AGPS):c.1797+11A>G rs375071040 0.00007
NM_003659.4(AGPS):c.*1073T>C rs1026415952 0.00006
NM_003659.4(AGPS):c.*1424G>A rs975289225 0.00006
NM_003659.4(AGPS):c.*1628C>G rs535440679 0.00006
NM_003659.4(AGPS):c.*2311G>A rs528583770 0.00006
NM_003659.4(AGPS):c.*2667G>C rs571741614 0.00006
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003659.4(AGPS):c.*3977T>G rs886055194 0.00004
NM_003659.4(AGPS):c.*794C>T rs912813369 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003659.4(AGPS):c.1569A>G (p.Val523=) rs150977180 0.00004
NM_003659.4(AGPS):c.*2088T>G rs529240564 0.00003
NM_003659.4(AGPS):c.*3060A>G rs886055192 0.00003
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00003
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu) rs144444120 0.00003
NM_003659.4(AGPS):c.1855+6C>A rs772552134 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_003659.4(AGPS):c.*513T>C rs886055172 0.00002
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) rs867493363 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003659.4(AGPS):c.*165T>A rs886055169 0.00001
NM_003659.4(AGPS):c.*2487C>T rs537655173 0.00001
NM_003659.4(AGPS):c.*3953A>G rs886055193 0.00001
NM_003659.4(AGPS):c.*4910C>T rs886055197 0.00001
NM_003659.4(AGPS):c.*5026C>T rs560345041 0.00001
NM_003659.4(AGPS):c.*5155C>T rs886055198 0.00001
NM_003659.4(AGPS):c.*641T>C rs886055173 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.1519C>T (p.Leu507=) rs761831871 0.00001
NM_003659.4(AGPS):c.1665G>A (p.Lys555=) rs759313804 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.1908T>C (p.Phe636=) rs765895661 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NC_000002.11:g.(178362494_178364345)_(178372760_178378546)del
NM_003659.4(AGPS):c.*1105dup rs574941020
NM_003659.4(AGPS):c.*118A>G rs187686783
NM_003659.4(AGPS):c.*1312T>C rs2079213030
NM_003659.4(AGPS):c.*1469T>G rs2079214761
NM_003659.4(AGPS):c.*1713TGA[1] rs143451487
NM_003659.4(AGPS):c.*1811_*1812insAAAA rs138605667
NM_003659.4(AGPS):c.*1814_*1815insAGAA rs61052002
NM_003659.4(AGPS):c.*1836_*1841del rs886055177
NM_003659.4(AGPS):c.*1838AT[10] rs373957026
NM_003659.4(AGPS):c.*1838AT[12] rs373957026
NM_003659.4(AGPS):c.*1860G>A rs62182697
NM_003659.4(AGPS):c.*1860_*1861dup rs1553519847
NM_003659.4(AGPS):c.*1862_*1863del rs886055181
NM_003659.4(AGPS):c.*1862_*1867del rs886055182
NM_003659.4(AGPS):c.*1863_*1864insATGT rs886055183
NM_003659.4(AGPS):c.*1868GT[7] rs1491154667
NM_003659.4(AGPS):c.*1868_*1869insCG rs886055185
NM_003659.4(AGPS):c.*1869T>C rs58814309
NM_003659.4(AGPS):c.*1878_*1883del rs886055186
NM_003659.4(AGPS):c.*1878_*1885del rs886055187
NM_003659.4(AGPS):c.*1880A>G rs58369399
NM_003659.4(AGPS):c.*1880AT[11] rs59535792
NM_003659.4(AGPS):c.*1880AT[7] rs59535792
NM_003659.4(AGPS):c.*1880AT[8] rs59535792
NM_003659.4(AGPS):c.*1882A>G rs1132025
NM_003659.4(AGPS):c.*2318A>G rs77518887
NM_003659.4(AGPS):c.*2582C>T rs886055191
NM_003659.4(AGPS):c.*3524T>C rs2079236633
NM_003659.4(AGPS):c.*361C>T rs1309071911
NM_003659.4(AGPS):c.*377C>G rs112754713
NM_003659.4(AGPS):c.*377C>T rs112754713
NM_003659.4(AGPS):c.*3854dup rs397783598
NM_003659.4(AGPS):c.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*4228A>C rs2079245322
NM_003659.4(AGPS):c.*4625C>T rs2079249293
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.*467_*475del rs886055171
NM_003659.4(AGPS):c.*4788G>T rs2079251648
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.*5159T>C rs536424736
NM_003659.4(AGPS):c.*5506T>C rs886055200
NM_003659.4(AGPS):c.*947T>G rs886055174
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003659.4(AGPS):c.1204G>A (p.Val402Ile)
NM_003659.4(AGPS):c.1233+13AT[7] rs200546003
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.1363-2A>T rs746449593
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) rs121434413
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531
NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)
NM_003659.4(AGPS):c.1546-84_1591dup
NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr) rs886055167
NM_003659.4(AGPS):c.1608-1G>A
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro) rs1411152201
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) rs387907214
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)
NM_003659.4(AGPS):c.301dup (p.Ser101fs)
NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr) rs886055164
NM_003659.4(AGPS):c.505A>T (p.Lys169Ter)
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) rs1686426425
NM_003659.4(AGPS):c.557_562+5del
NM_003659.4(AGPS):c.562+1G>A
NM_003659.4(AGPS):c.563-10del rs3834134
NM_003659.4(AGPS):c.580delinsCC (p.Ile194fs)
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)
NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)
NM_003659.4(AGPS):c.637+2T>A
NM_003659.4(AGPS):c.710-2A>G
NM_003659.4(AGPS):c.774G>A (p.Leu258=) rs1686637520
NM_003659.4(AGPS):c.793C>T (p.Arg265Ter) rs886055165
NM_003659.4(AGPS):c.870+4T>A rs886055166
NM_003659.4(AGPS):c.918_919del (p.Glu306fs)
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922

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