ClinVar Miner

List of variants studied for Knobloch syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (4):

Hereditary glaucoma, primary closed-angle; Knobloch syndrome 1
Knobloch syndrome
Knobloch syndrome 1
Knobloch syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs)	rs776238441
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)	rs749009747
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	rs767090801

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