List of variants studied for Camptomelic dysplasia by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

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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.*1989del	rs11448561
NM_000346.4(SOX9):c.*1989dup	rs11448561
NM_000346.4(SOX9):c.*744del	rs572140615
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
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly)	rs1908142618

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