ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type by Genome-Nilou Lab

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.979-87A>G rs628038 0.43140
NM_012434.5(SLC17A5):c.1112-36G>A rs4708065 0.32463
NM_012434.5(SLC17A5):c.526-106G>T rs3757111 0.22477
NM_012434.5(SLC17A5):c.819+52G>A rs520589 0.16798
NM_012434.5(SLC17A5):c.819+79T>G rs558839 0.16769
NM_012434.5(SLC17A5):c.820-51C>G rs611580 0.16614
NM_012434.5(SLC17A5):c.978+70G>A rs610260 0.16613
NM_012434.5(SLC17A5):c.978+88C>T rs474661 0.16611
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.979-33G>A rs12199937 0.05489
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.292-22T>C rs12206001 0.05386
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_012434.5(SLC17A5):c.525+36G>C rs12192476
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu) rs386833993

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