List of variants in gene combination LOC126806462, SATB2 reported as pathogenic for chromosomal disorder

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1763dup (p.Pro589fs)
NM_001172509.2(SATB2):c.1826del (p.Asp609fs)	rs1574459072
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)	rs1553538919
NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs)	rs1692186575
NM_001172509.2(SATB2):c.2104del (p.Asp702fs)

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