ClinVar Miner

List of variants in gene SATB1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002971.6(SATB1):c.874A>G (p.Ser292Gly) rs139364302 0.00463
NM_002971.6(SATB1):c.300G>A (p.Leu100=) rs61751589 0.00290
NM_002971.6(SATB1):c.2268C>T (p.Asp756=) rs202103426 0.00016
NM_002971.6(SATB1):c.1779+680G>A rs1455981520 0.00001
NM_002971.6(SATB1):c.111G>A (p.Gly37=)
NM_002971.6(SATB1):c.1173G>A (p.Ala391=)
NM_002971.6(SATB1):c.117G>T (p.Pro39=)
NM_002971.6(SATB1):c.120A>G (p.Leu40=)
NM_002971.6(SATB1):c.1308G>A (p.Pro436=)
NM_002971.6(SATB1):c.1335G>A (p.Gln445=)
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) rs1694399198
NM_002971.6(SATB1):c.1779+680_1779+681delinsAA
NM_002971.6(SATB1):c.1779+681T>A
NM_002971.6(SATB1):c.1794ACAGCA[1] (p.Gln606_Gln607del)
NM_002971.6(SATB1):c.1801CAG[8] (p.Gln607_Ala608insGln)
NM_002971.6(SATB1):c.1835_1837del (p.Pro612del)
NM_002971.6(SATB1):c.1996G>A (p.Val666Met)
NM_002971.6(SATB1):c.212-3T>C
NM_002971.6(SATB1):c.255C>T (p.Asn85=)
NM_002971.6(SATB1):c.430T>C (p.Tyr144His)
NM_002971.6(SATB1):c.640-6A>G
NM_002971.6(SATB1):c.922G>A (p.Val308Ile)

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