ClinVar Miner

List of variants in gene SATB1 reported by GeneDx

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002971.6(SATB1):c.1386C>A (p.Pro462=) rs2229261 0.64296
NM_002971.6(SATB1):c.1779+665G>A rs116044839 0.07529
NM_002971.6(SATB1):c.1657C>T (p.Arg553Ter) rs145361574 0.00001
NM_002971.6(SATB1):c.273C>G (p.Cys91Trp) rs777511572 0.00001
NM_002971.6(SATB1):c.-24-2A>G rs2470828425
NM_002971.6(SATB1):c.1055_1056del (p.Pro352fs) rs2125115880
NM_002971.6(SATB1):c.108C>G (p.Asn36Lys)
NM_002971.6(SATB1):c.1135G>A (p.Val379Ile)
NM_002971.6(SATB1):c.1141G>A (p.Asp381Asn) rs2470652189
NM_002971.6(SATB1):c.115C>T (p.Pro39Ser)
NM_002971.6(SATB1):c.1195A>G (p.Asn399Asp)
NM_002971.6(SATB1):c.1205A>G (p.Gln402Arg) rs2470651558
NM_002971.6(SATB1):c.1206+1G>T rs2125115541
NM_002971.6(SATB1):c.1246A>G (p.Lys416Glu) rs2470593025
NM_002971.6(SATB1):c.1247A>C (p.Lys416Thr) rs2470592992
NM_002971.6(SATB1):c.1374G>A (p.Met458Ile) rs2470590993
NM_002971.6(SATB1):c.137G>A (p.Gly46Glu)
NM_002971.6(SATB1):c.1480A>G (p.Ile494Val)
NM_002971.6(SATB1):c.1576G>A (p.Gly526Arg) rs2125128988
NM_002971.6(SATB1):c.1585T>A (p.Cys529Ser)
NM_002971.6(SATB1):c.1720G>C (p.Val574Leu) rs1694390694
NM_002971.6(SATB1):c.1724A>C (p.His575Pro)
NM_002971.6(SATB1):c.1745C>A (p.Pro582His) rs2470412031
NM_002971.6(SATB1):c.1779+638G>C
NM_002971.6(SATB1):c.1779+655_1779+703del rs1415313256
NM_002971.6(SATB1):c.1877del (p.Pro626fs) rs773446481
NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter) rs752755275
NM_002971.6(SATB1):c.1942C>T (p.Arg648Ter) rs1162060084
NM_002971.6(SATB1):c.1946C>T (p.Thr649Ile) rs2470394184
NM_002971.6(SATB1):c.2184G>T (p.Leu728Phe)
NM_002971.6(SATB1):c.2207del (p.Asn736fs) rs2125122492
NM_002971.6(SATB1):c.2218del (p.Leu740fs) rs2470392160
NM_002971.6(SATB1):c.2224del (p.Ser742fs) rs1694217596
NM_002971.6(SATB1):c.315G>A (p.Met105Ile) rs2470804296
NM_002971.6(SATB1):c.344_348delinsAGCAATGTCAATTGCTATGTCAATGGCATAGCAATGACAGCA (p.Leu115_Leu116delinsTer)
NM_002971.6(SATB1):c.487G>A (p.Val163Met) rs1056934746
NM_002971.6(SATB1):c.507G>T (p.Gln169His)
NM_002971.6(SATB1):c.515+2T>C
NM_002971.6(SATB1):c.541C>G (p.Pro181Ala) rs2125158084
NM_002971.6(SATB1):c.552G>T (p.Trp184Cys)
NM_002971.6(SATB1):c.611del (p.Ser204fs)
NM_002971.6(SATB1):c.625T>C (p.Cys209Arg)
NM_002971.6(SATB1):c.679A>G (p.Asn227Asp) rs2470676201
NM_002971.6(SATB1):c.680del (p.Asn227fs) rs2470676187
NM_002971.6(SATB1):c.716G>A (p.Trp239Ter)
NM_002971.6(SATB1):c.764G>A (p.Ser255Asn)
NM_002971.6(SATB1):c.86A>G (p.Lys29Arg)
NM_002971.6(SATB1):c.911A>T (p.His304Leu) rs1430700062
NM_002971.6(SATB1):c.95G>A (p.Arg32His) rs1698356763

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