List of variants in gene combination LOC108021846, 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del)	rs1908098789
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)	rs2143240089
NM_000346.4(SOX9):c.339G>A (p.Met113Ile)	rs2143240113
NM_000346.4(SOX9):c.358C>G (p.Arg120Gly)	rs2143240377
NM_000346.4(SOX9):c.369dup (p.Ala124fs)	rs2143240579
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp)	rs2143241065

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