List of variants in gene COL18A1 reported as likely benign for inherited vitreoretinopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.2379+7C>T	rs202100967	0.00379
NM_001379500.1(COL18A1):c.2032-9T>A	rs144913625	0.00375
NM_001379500.1(COL18A1):c.1675-6G>A	rs142726108	0.00263
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr)	rs144281842	0.00167
NM_001379500.1(COL18A1):c.1702-20G>A	rs374576102	0.00081
NM_001379500.1(COL18A1):c.2328G>A (p.Leu776=)	rs537203447	0.00053
NM_001379500.1(COL18A1):c.604G>A (p.Gly202Arg)	rs373735265	0.00026
NM_001379500.1(COL18A1):c.1155C>T (p.Val385=)	rs761020121	0.00021
NM_001379500.1(COL18A1):c.107-12513C>T	rs375087150	0.00005
NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=)	rs377652187	0.00005
NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=)	rs368902481	0.00004
NM_001379500.1(COL18A1):c.1221+20dup	rs200362222
NM_001379500.1(COL18A1):c.780G>C (p.Glu260Asp)	rs560442019

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