ClinVar Miner

List of variants studied for Steel syndrome by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) rs1401322428
NM_032888.4(COL27A1):c.3556-2A>G rs1554821679
NM_032888.4(COL27A1):c.521_528del (p.Cys174fs) rs1554787559

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