ClinVar Miner

List of variants in gene AGPS reported as benign for Rhizomelic chondrodysplasia punctata

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.*4516_*4517del rs3215354 0.11154
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.*1814_*1815insAGAA rs61052002
NM_003659.4(AGPS):c.*1880AT[8] rs59535792
NM_003659.4(AGPS):c.*3854dup rs397783598

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