ClinVar Miner

List of variants studied for Stickler syndrome type 2 by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904

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