ClinVar Miner

List of variants studied for Stickler syndrome type 1 by OMIM

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Total variants: 10
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HGVS dbSNP
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, IVS17, A-G, -2
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.709-2A>G rs1592232116

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