ClinVar Miner

List of variants in gene AGPS studied for Rhizomelic chondrodysplasia punctata

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
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.207A>G (p.Ala69=) rs34744592 0.02410
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 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.*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.*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.*1878_*1883del rs886055186
NM_003659.4(AGPS):c.*1878_*1885del rs886055187
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.*3854dup rs397783598
NM_003659.4(AGPS):c.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.*467_*475del rs886055171
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
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.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922

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