List of variants reported as benign for GM3 synthase deficiency

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.85889046A>G	rs28364794	0.49390
NC_000002.12:g.85889045G>T	rs28364795	0.33112
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)	rs1138484	0.17888
NM_003896.4(ST3GAL5):c.849+19A>G	rs80130823	0.00552
NM_003896.4(ST3GAL5):c.*482G>A	rs115544178	0.00535
NM_003896.4(ST3GAL5):c.*594G>A	rs116456890	0.00476
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)	rs559756386	0.00382
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)	rs149309844	0.00367
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	0.00028
NM_003896.4(ST3GAL5):c.207-5del	rs769287782
NM_003896.4(ST3GAL5):c.662+17del	rs370442067
NM_003896.4(ST3GAL5):c.662+17dup	rs370442067
NM_003896.4(ST3GAL5):c.662+18_662+19del	rs369967911
NM_003896.4(ST3GAL5):c.82+18dup

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