ClinVar Miner

List of variants studied for Steel syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) rs145069844 0.00017
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) rs1328051341 0.00001
NM_032888.4(COL27A1):c.5215A>G (p.Lys1739Glu) rs1829161753 0.00001
NM_032888.4(COL27A1):c.62+4A>G rs1848097795

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