ClinVar Miner

List of variants studied for Sialic acid storage disease, severe infantile type by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.1111+1G>A	rs777862172	0.00001
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)	rs753141230

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