List of variants in gene COL18A1 reported as pathogenic for Knobloch syndrome

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: 12

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HGVS	dbSNP	gnomAD frequency
COL18A1, 2-BP DEL	rs398122391	0.00029
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs)	rs768663340	0.00001
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs)	rs1568930288	0.00001
COL18A1, 2-BP DEL, 3617CT
NM_001379500.1(COL18A1):c.1070dup (p.Gly358fs)	rs1555860555
NM_001379500.1(COL18A1):c.1158del (p.Gly387fs)	rs1438060081
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs)	rs775168204
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)	rs1555870809
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)	rs749009747
NM_001379500.1(COL18A1):c.268del (p.Arg90fs)	rs2035293928
NM_001379500.1(COL18A1):c.429dup (p.Ala144fs)	rs1602456821
NM_001379500.1(COL18A1):c.589del (p.Leu197fs)	rs2035305918

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