List of variants reported as uncertain significance for campomelic dysplasia by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)	rs566929141	0.00019
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)
NM_000346.4(SOX9):c.507C>G (p.His169Gln)	rs2229989
NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)

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