List of variants in gene CHD7 reported as pathogenic by Baylor Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)	rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs)	rs1563559321
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	rs794727293
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.4994G>A (p.Trp1665Ter)	rs1805143456
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)	rs1563560018
NM_017780.4(CHD7):c.519del (p.Pro174fs)	rs1809050272
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5405-17G>A	rs794727423
NM_017780.4(CHD7):c.5607+1G>A	rs1554603672
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	rs1554603970
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	rs121434341
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)	rs1064793346

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