List of variants in gene CHD7 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	rs587783429
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)	rs1586350727
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	rs1563644066
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	rs794727293
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter)	rs1563560149
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter)	rs1586248834
NM_017780.4(CHD7):c.6627del (p.Glu2210fs)	rs1805560892
NM_017780.4(CHD7):c.6989del (p.Gly2330fs)	rs1563664199
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)	rs587783455
NM_017780.4(CHD7):c.775del (p.His259fs)	rs1809069833
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)	rs587783457

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