List of variants in gene SOX9 reported as likely pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter)	rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter)	rs1057518216
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter)	rs1341243329
NM_000346.4(SOX9):c.1427T>C (p.Met476Thr)	rs1057518669
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly)	rs1908142618
NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)
NM_000346.4(SOX9):c.508C>A (p.Pro170Thr)	rs866706988
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	rs866706988
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	rs866706988
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys)	rs1555629158
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg)	rs1555629170
NM_000346.4(SOX9):c.529C>T (p.Arg177Trp)	rs2143246033
NM_000346.4(SOX9):c.557_560del (p.Gln186fs)
NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs)
NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter)	rs1324081394

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