List of variants in gene COL2A1 reported as benign for Stickler syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.-119C>T	rs3803182	0.79564
NM_001844.5(COL2A1):c.654+15T>G	rs1034762	0.79333
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)	rs3803183	0.75794
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)	rs1635553	0.45566
NM_001844.5(COL2A1):c.2194-55T>C	rs3829737	0.43071
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)	rs2276454	0.37692
NM_001844.5(COL2A1):c.762+15G>A	rs10875716	0.25696
NM_001844.5(COL2A1):c.1366-11C>T	rs10875714	0.20215
NM_001844.5(COL2A1):c.504C>A (p.Gly168=)	rs3737548	0.20086
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)	rs2070739	0.09896
NM_001844.5(COL2A1):c.*136C>T	rs41272777	0.05859
NM_001844.5(COL2A1):c.4075-14C>G	rs12721425	0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile)	rs12721427	0.05396
NM_001844.5(COL2A1):c.2094+7A>G	rs17801742	0.05167
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)	rs41317939	0.05124
NM_001844.5(COL2A1):c.2094+12G>C	rs17122510	0.04673
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)	rs17122498	0.04377
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)	rs34392760	0.03719
NM_001844.5(COL2A1):c.2625+9C>T	rs41272027	0.02608
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)	rs1793947	0.02436
NM_001844.5(COL2A1):c.*4C>T	rs41272773	0.02262
NM_001844.5(COL2A1):c.*295C>T	rs41272781	0.02009
NM_001844.5(COL2A1):c.610-7G>A	rs7967258	0.01915
NM_001844.5(COL2A1):c.1266+7G>A	rs41317915	0.01359
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)	rs1793940	0.01213
NM_001844.5(COL2A1):c.708+8C>T	rs41317893	0.00720
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)	rs1793948	0.00473
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)	rs141423593	0.00278
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)	rs35012272	0.00058
NM_001844.5(COL2A1):c.147G>A (p.Pro49=)	rs372734539	0.00012
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	rs186233557
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)	rs41272029
NM_001844.5(COL2A1):c.2679+69dup	rs11443755

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