ClinVar Miner

List of variants studied for Rhizomelic chondrodysplasia punctata by Illumina Laboratory Services, Illumina

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Total variants: 35
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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_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) rs143205045 0.00110
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_014236.4(GNPAT):c.*123A>G rs537905640 0.00006
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*305_*310del rs886061123
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.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3]) rs886055162
NM_014236.4(GNPAT):c.1522+15T>C rs200561922

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