ClinVar Miner

List of variants in gene SATB2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro) rs12619995 0.00006
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1520A>C (p.Lys507Thr)
NM_001172509.2(SATB2):c.1565G>T (p.Arg522Leu)
NM_001172509.2(SATB2):c.157A>G (p.Lys53Glu)
NM_001172509.2(SATB2):c.1582A>G (p.Ser528Gly) rs1490098266
NM_001172509.2(SATB2):c.163G>A (p.Val55Met)
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.862G>T (p.Ala288Ser) rs142825652

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