List of variants in gene CCDC8 reported as pathogenic for 3M syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032040.5(CCDC8):c.612dup (p.Lys205fs)	rs752254407
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032040.5(CCDC8):c.84dup (p.Lys29Ter)	rs1568590155
NM_032040.5(CCDC8):c.980del (p.Gln327fs)

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