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

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	rs41317925	0.01027
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	rs112469769	0.00730
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)	rs12721379	0.00478
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)	rs150865922	0.00456
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	rs35504014	0.00278
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)	rs41272041	0.00234
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)	rs41263851	0.00198
NM_001844.5(COL2A1):c.3003+9G>A	rs200403247	0.00159
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=)	rs35656892	0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)	rs34613777	0.00138
NM_001844.5(COL2A1):c.709-8G>T	rs200757693	0.00105
NM_001844.5(COL2A1):c.2095-4G>A	rs111570218	0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)	rs143851987	0.00086
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	rs41263847	0.00073
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)	rs145884117	0.00067
NM_001844.5(COL2A1):c.*28C>T	rs41272775	0.00051
NM_001844.5(COL2A1):c.3327+3G>A	rs192229438	0.00031
NM_001844.5(COL2A1):c.2680-9C>T	rs369022247	0.00026
NM_001844.5(COL2A1):c.1023+3G>A	rs374570848	0.00016
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)	rs140740708	0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	rs200214562	0.00014
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)	rs369359592	0.00013
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)	rs141375467	0.00005
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	rs748511528	0.00002

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