List of variants in gene SOX9 reported as benign for bone development disease

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.*23A>C	rs1042667	0.36428
NM_000346.4(SOX9):c.507C>T (p.His169=)	rs2229989	0.16350
NM_000346.4(SOX9):c.1113G>A (p.Ala371=)	rs929651	0.01816
NM_000346.4(SOX9):c.685+8G>A	rs117696751	0.00205
NM_000346.4(SOX9):c.858C>A (p.Ile286=)	rs149355998	0.00125
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=)	rs80338688	0.00095
NM_000346.4(SOX9):c.531G>A (p.Arg177=)	rs144824678	0.00071
NM_000346.4(SOX9):c.686-8del	rs564339518	0.00060
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)	rs566929141	0.00019
NM_000346.4(SOX9):c.477G>A (p.Glu159=)	rs369677666	0.00010
NM_000346.4(SOX9):c.480G>A (p.Arg160=)	rs370267426	0.00007
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg)	rs202028563	0.00003
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala)	rs750284138	0.00002
NM_000346.4(SOX9):c.657C>T (p.Ser219=)	rs777250801	0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu)	rs779386878	0.00001
NM_000346.4(SOX9):c.*1989del	rs11448561
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)	rs776337541
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln)	rs762041707
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)	rs761585795
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)

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