ClinVar Miner

List of variants reported as benign for GM3 synthase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
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.37C>T (p.Pro13Ser) rs559756386 0.00354

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