List of variants in gene CCDC40 reported by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.248del (p.Ala83fs)	rs397515393	0.00029
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)	rs187993089	0.00021
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser)	rs201064110	0.00014
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)	rs201293301	0.00010
NM_017950.4(CCDC40):c.775G>A (p.Ala259Thr)	rs1301593481	0.00001
NM_017950.4(CCDC40):c.940-2A>G	rs750708201	0.00001
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)	rs1567811487
NM_017950.4(CCDC40):c.3094G>C (p.Glu1032Gln)	rs2038828283
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)	rs1567818236

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