ClinVar Miner

List of variants in gene CHD7 reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)	rs143796440	0.00004
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)	rs886040981
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter)	rs1554599035

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