List of variants reported as benign for GM3 synthase deficiency by Invitae

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)	rs1138484	0.17151
NM_003896.4(ST3GAL5):c.849+19A>G	rs80130823	0.00552
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)	rs149309844	0.00369
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)	rs559756386	0.00354
NM_003896.4(ST3GAL5):c.850-5C>T	rs113976691	0.00319
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=)	rs144270260	0.00101
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=)	rs199590656	0.00022
NM_003896.4(ST3GAL5):c.207-5del
NM_003896.4(ST3GAL5):c.662+17del
NM_003896.4(ST3GAL5):c.662+17dup	rs370442067
NM_003896.4(ST3GAL5):c.662+18_662+19del	rs369967911

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