List of variants in gene CHD2 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.1802_1809+46del
NM_001271.4(CHD2):c.3445_3448del (p.Pro1149fs)	rs2054119238
NM_001271.4(CHD2):c.3786_3787del (p.Val1263fs)	rs869312877
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter)	rs372786805
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)	rs797044912
NM_001271.4(CHD2):c.696C>G (p.Tyr232Ter)

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