ClinVar Miner

List of variants in gene ST3GAL3 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006279.5(ST3GAL3):c.1068dup (p.Glu357fs) rs1391400488
NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr) rs1557612719
NM_006279.5(ST3GAL3):c.118+39G>T rs766784665
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp) rs387906943
NM_006279.5(ST3GAL3):c.891+1del rs1387140766

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