ClinVar Miner

List of variants in gene COL9A1 studied for Multiple Epiphyseal Dysplasia, Dominant

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.*174T>C rs776515044 0.00003
NM_001851.6(COL9A1):c.*242dup rs3215859
NM_001851.6(COL9A1):c.*247dup rs886061694
NM_001851.6(COL9A1):c.1342-16dup rs759288929

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