ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Mendelics

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Total variants: 12
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HGVS dbSNP
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
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.2194-55T>C rs3829737
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
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.4343C>G (p.Thr1448Ser) rs1481212897
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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