List of variants in gene CHD7 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	rs587783429
NM_017780.4(CHD7):c.2238+1G>A	rs1811957737
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser)	rs886041167
NM_017780.4(CHD7):c.4353+1G>A	rs1804804514
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)	rs875989879
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)	rs1320897198

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