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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_032040.5(CCDC8):c.963del (p.Ala323fs)	rs746873023	0.00004
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)	rs559473497
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)	rs1973248576
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)	rs774464372
NM_032040.5(CCDC8):c.860del (p.Gln287fs)	rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)

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