List of variants in gene CCDC40 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)	rs948532763	0.00001
NM_017950.4(CCDC40):c.2832+297G>T	rs1187849857
NM_017950.4(CCDC40):c.2832+306G>T	rs1435853783
NM_017950.4(CCDC40):c.2832+395dup	rs1216169899
NM_017950.4(CCDC40):c.298del (p.Thr100fs)	rs2037232562

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