List of variants reported as uncertain significance for campomelic dysplasia by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.*1164del	rs886053360
NM_000346.4(SOX9):c.*1167del	rs886053361
NM_000346.4(SOX9):c.*1183del	rs796896836
NM_000346.4(SOX9):c.1523_1528del	rs886053362
NM_000346.4(SOX9):c.1988_1989del	rs11448561
NM_000346.4(SOX9):c.*1989dup	rs11448561
NM_000346.4(SOX9):c.*744dup	rs572140615
NM_000346.4(SOX9):c.932_933del	rs755085270
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)	rs776337541

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