List of variants in gene COL2A1 reported as likely pathogenic for Stickler syndrome, type I, nonsyndromic ocular

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.104_105dup (p.Gln36fs)
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)	rs2136587632
NM_001844.5(COL2A1):c.1527+1G>A
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)	rs751205887
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)	rs2136511549

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