List of variants in gene CHD7 reported as pathogenic by Athena Diagnostics Inc

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_017780.4(CHD7):c.2740G>T (p.Glu914Ter)	rs1586389368
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	rs886040991
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter)

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