ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP
NM_001844.5(COL2A1):c.*28C>T rs41272775
NM_001844.5(COL2A1):c.1023+3G>A rs374570848
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014
NM_001844.5(COL2A1):c.2680-9C>T rs369022247
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708
NM_001844.5(COL2A1):c.3003+9G>A rs200403247
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.3327+3G>A rs192229438
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987
NM_001844.5(COL2A1):c.709-8G>T rs200757693

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