List of variants reported as uncertain significance for Steel syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro)	rs145069844	0.00014
NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp)	rs143398547	0.00004
NM_032888.4(COL27A1):c.1883G>A (p.Gly628Glu)	rs746488198	0.00003
NM_032888.4(COL27A1):c.5215A>G (p.Lys1739Glu)	rs1829161753	0.00001
NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg)	rs1831978153
NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys)
NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser)
NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg)
NM_032888.4(COL27A1):c.4844C>T (p.Pro1615Leu)
NM_032888.4(COL27A1):c.62+4A>G	rs1848097795
NM_032888.4(COL27A1):c.[295G>A;3056C>A]

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