List of variants studied for SATB2 associated disorder by GeneReviews

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		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)	rs886041516	0.00001
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)	rs1559174854
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)	rs1559174813
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)	rs1559164403
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	rs1553547838
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)	rs1559136052
NM_001172509.2(SATB2):c.2018dup (p.His673fs)	rs1559136015
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)	rs1559135904
NM_001172509.2(SATB2):c.346+2T>G	rs1559052017
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	rs137853127
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)	rs1558995207
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	rs797044874

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