ClinVar Miner

List of variants reported as pathogenic for CHARGE syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter)	rs2150708828
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)	rs1554597716
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)	rs757160222

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