ClinVar Miner

List of variants in gene ST3GAL5 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_003896.4(ST3GAL5):c.849+19A>G rs80130823 0.00552
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_003896.4(ST3GAL5):c.850-5C>T rs113976691 0.00319
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) rs144270260 0.00101
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) rs199590656 0.00022
NM_003896.4(ST3GAL5):c.662+17del
NM_003896.4(ST3GAL5):c.662+17dup rs370442067
NM_003896.4(ST3GAL5):c.662+18_662+19del rs369967911

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