List of variants reported as likely pathogenic for GM3 synthase deficiency by Invitae

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.82+1G>C	rs878854615	0.00001
NM_003896.4(ST3GAL5):c.207-2A>C	rs2104059095
NM_003896.4(ST3GAL5):c.662+2T>C
NM_003896.4(ST3GAL5):c.663-1G>A
NM_003896.4(ST3GAL5):c.850-1G>A	rs2103936382

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