ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.4(COL2A1):c.971delG rs1555168309
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs) rs2136590109
NM_001844.5(COL2A1):c.1064del (p.Pro355fs)
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) rs2136571080
NM_001844.5(COL2A1):c.1527+1G>C
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) rs2136567807
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del) rs2136567630
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs) rs2136544726
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) rs2136539942
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) rs2136538046
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) rs2136537559
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.2625+1del rs2136537220
NM_001844.5(COL2A1):c.2625+2T>C
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) rs2136528419
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.293-2A>T
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3165+2_3166-84del rs1938789358
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)
NM_001844.5(COL2A1):c.429+2T>G
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
NM_001844.5(COL2A1):c.609+4del rs1555168965
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_001844.5(COL2A1):c.610-2A>T
NM_001844.5(COL2A1):c.654+4dup rs2136618963
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC

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