ClinVar Miner

List of variants reported as likely pathogenic for CHARGE syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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.3269_3272del (p.Asp1090fs)	rs2487818782
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)	rs2487844058
NM_017780.4(CHD7):c.8896G>T (p.Ala2966Ser)

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