List of variants in gene SATB2 reported as pathogenic by Ambry Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-1G>A	rs1688108762
NM_001172509.2(SATB2):c.1196del (p.Arg399fs)	rs1553547906
NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs)	rs1559164234
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	rs1553547838
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter)	rs1687959307
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
NM_001172509.2(SATB2):c.1728del (p.Glu577fs)	rs1687511235
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)	rs1559052032
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs)	rs1553551705
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	rs797044874
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter)	rs1057518496

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