ClinVar Miner

List of variants studied for GM3 synthase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)	rs559756386	0.00354
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	rs200683924	0.00028
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)	rs104893668	0.00002
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser)	rs952271385	0.00001

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