List of variants reported as pathogenic for Stickler syndrome type 1 by Mendelics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1420-2A>G	rs794727377
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)	rs2136571005
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)	rs1555166555
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)	rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)	rs886041713
NM_001844.5(COL2A1):c.2679+1G>A	rs1592205758
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	rs748459670
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)	rs2136514646
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)	rs2136505595
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)	rs2136616311
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	rs121912876

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