List of variants reported as benign for Sialic acid storage disease, severe infantile type by Illumina Laboratory Services, Illumina

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.*971G>A	rs670248	0.38715
NM_012434.5(SLC17A5):c.*385C>G	rs3734518	0.26106
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)	rs472294	0.10691
NM_012434.5(SLC17A5):c.*193A>G	rs3734517	0.05453
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)	rs3757112	0.05389
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_012434.5(SLC17A5):c.*909C>T	rs142349844	0.01560
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)	rs16883930	0.01342
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)	rs34348416	0.00257
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00215
NM_012434.5(SLC17A5):c.*764G>A	rs139964473

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