ClinVar Miner

List of variants reported as benign for Stickler syndrome type 1 by Illumina Clinical Services Laboratory,Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001844.5(COL2A1):c.*136C>T rs41272777
NM_001844.5(COL2A1):c.*295C>T rs41272781
NM_001844.5(COL2A1):c.*4C>T rs41272773
NM_001844.5(COL2A1):c.-119C>T rs3803182
NM_001844.5(COL2A1):c.1266+7G>A rs41317915
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272
NM_001844.5(COL2A1):c.1366-11C>T rs10875714
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939
NM_001844.5(COL2A1):c.2094+12G>C rs17122510
NM_001844.5(COL2A1):c.2094+7A>G rs17801742
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183
NM_001844.5(COL2A1):c.2625+9C>T rs41272027
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498
NM_001844.5(COL2A1):c.4075-14C>G rs12721425
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548
NM_001844.5(COL2A1):c.610-7G>A rs7967258
NM_001844.5(COL2A1):c.654+15T>G rs1034762
NM_001844.5(COL2A1):c.708+8C>T rs41317893
NM_001844.5(COL2A1):c.762+15G>A rs10875716

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