ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001844.4(COL2A1):c.971delG rs1555168309
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735

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