ClinVar Miner

List of variants in gene ST3GAL3 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NC_000001.10:g.(?_44360035)_(44360169_?)del
NM_006279.5(ST3GAL3):c.302+1del rs2154197473
NM_006279.5(ST3GAL3):c.529C>T (p.Arg177Ter) rs2077858180
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.729_730insCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATCGTC (p.Tyr244delinsLeuTer) rs2154270971
NM_006279.5(ST3GAL3):c.891+1del rs1387140766
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410

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