List of variants in gene SOX9 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.10:g.69521863_69670036dup
NM_000346.4(SOX9):c.1103dup (p.Gln369fs)	rs1598176785
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)	rs80338688
NM_000346.4(SOX9):c.462C>G (p.Phe154Leu)	rs137853129
NM_000346.4(SOX9):c.472G>A (p.Ala158Thr)	rs137853130
NM_000346.4(SOX9):c.493C>T (p.His165Tyr)	rs28940282
NM_000346.4(SOX9):c.507C>G (p.His169Gln)	rs2229989
NM_000346.4(SOX9):c.517A>G (p.Lys173Glu)	rs104894647
NM_000346.4(SOX9):c.583C>T (p.Gln195Ter)	rs1480235826
NM_000346.4(SOX9):c.736dup (p.Gln246fs)	rs587776541
NM_000346.4(SOX9):c.788dup (p.Arg264fs)	rs1274036689
NM_000346.4(SOX9):c.855_858dup (p.Glu287fs)	rs2143251627
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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