ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Mendelics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) rs2136571080
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) rs2136571005
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) rs2136567807
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del) rs2136567630
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) rs2136538046
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
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.2679+69dup rs11443755
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) rs2136514646
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
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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