ClinVar Miner

List of variants in gene GATA3 reported as likely benign for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.1050+19G>A rs150545188 0.00072
NM_001002295.2(GATA3):c.294C>T (p.Asp98=) rs144221016 0.00039
NM_001002295.2(GATA3):c.375C>T (p.Gly125=) rs142451494 0.00029
NM_001002295.2(GATA3):c.330C>T (p.Ser110=) rs111978415 0.00027
NM_001002295.2(GATA3):c.591G>A (p.Glu197=) rs372630189 0.00018
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) rs202168967 0.00011
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001002295.2(GATA3):c.948G>A (p.Thr316=) rs12572959 0.00003
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup) rs547425013
NM_001002295.2(GATA3):c.480C>T (p.Asp160=) rs143627754
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) rs148835259
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser) rs11567901

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