List of variants in gene SATB1 studied for Kohlschutter-Tonz syndrome-like

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002971.6(SATB1):c.1779+680G>A	rs1455981520	0.00001
NM_002971.6(SATB1):c.1139G>A (p.Arg380His)	rs2125115633
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln)	rs2125208683
NM_002971.6(SATB1):c.1220A>G (p.Glu407Gly)	rs1696356628
NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg)	rs1291314034
NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg)	rs1695858904
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys)	rs1694399198
NM_002971.6(SATB1):c.2137G>T (p.Glu713Ter)	rs2470392910
NM_002971.6(SATB1):c.301G>A (p.Val101Met)	rs758668882
NM_002971.6(SATB1):c.923dup (p.Ser309fs)	rs2470656351
NM_002971.6(SATB1):c.944A>G (p.Gln315Arg)	rs2470655841

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