List of variants in gene combination LOC126806462, SATB2 reported as likely 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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1741-2A>C
NM_001172509.2(SATB2):c.1743dup (p.Leu582fs)
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)	rs1692192971
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)	rs1553538919
NM_001172509.2(SATB2):c.1994A>G (p.Asn665Ser)
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)	rs1559136030

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