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
NC_000002.12:g.85889046A>G rs28364794 0.49390
NC_000002.12:g.85889045G>T rs28364795 0.33112
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17888
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 0.00382

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