List of variants reported as uncertain significance for Stickler syndrome, type I, nonsyndromic ocular

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)	rs533540496	0.00038
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)	rs1380248932	0.00001
NM_001844.5(COL2A1):c.1553C>G (p.Pro518Arg)
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln)	rs2136534972
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)	rs1565664375
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)

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