ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1

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Total variants: 14
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HGVS dbSNP
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3165+2_3166-84del
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.609+4del rs1555168965
NM_001844.5(COL2A1):c.610-17_617del

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