List of variants reported as pathogenic for GM3 synthase deficiency by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00013
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)	rs104893668	0.00002
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg)	rs771732955	0.00001
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser)	rs886037930

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