List of variants in gene combination LOC108021846, SOX9 reported as likely benign for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.287A>G (p.Asn96Ser)	rs148407362	0.00003
NM_000346.4(SOX9):c.48G>A (p.Lys16=)	rs1412757423	0.00002
NM_000346.4(SOX9):c.15C>T (p.Asp5=)	rs768210143	0.00001
NM_000346.4(SOX9):c.18C>T (p.Pro6=)	rs780889240	0.00001
NM_000346.4(SOX9):c.108G>T (p.Pro36=)
NM_000346.4(SOX9):c.111G>T (p.Ser37=)	rs1327415352
NM_000346.4(SOX9):c.138G>A (p.Thr46=)
NM_000346.4(SOX9):c.141G>A (p.Arg47=)
NM_000346.4(SOX9):c.144C>G (p.Pro48=)
NM_000346.4(SOX9):c.156G>C (p.Thr52=)	rs747786977
NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)
NM_000346.4(SOX9):c.174C>T (p.Pro58=)
NM_000346.4(SOX9):c.276G>A (p.Pro92=)	rs139490970
NM_000346.4(SOX9):c.336C>T (p.Phe112=)
NM_000346.4(SOX9):c.431+12C>T
NM_000346.4(SOX9):c.431+8C>T
NM_000346.4(SOX9):c.431+9C>G
NM_000346.4(SOX9):c.431+9C>T
NM_000346.4(SOX9):c.55T>A (p.Ser19Thr)	rs1908086972
NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr)
NM_000346.4(SOX9):c.81C>G (p.Ser27=)
NM_000346.4(SOX9):c.9C>G (p.Leu3=)

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