List of variants reported as likely pathogenic for GM3 synthase deficiency by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)	rs1383734078	0.00002
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)	rs367638648
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)	rs754643632
NM_003896.4(ST3GAL5):c.850-1G>A	rs2103936382

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