ClinVar Miner

List of variants reported as benign for Rhizomelic chondrodysplasia punctata by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.*4516_*4517del rs3215354 0.11154
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
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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