ClinVar Miner

List of variants reported as pathogenic for Knobloch syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (4):

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_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001379500.1(COL18A1):c.1002del (p.Glu335fs)
NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs)	rs1365450066

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