ClinVar Miner

List of variants studied for Hurler syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)
NM_000203.5(IDUA):c.271del (p.His91fs)
NM_000203.5(IDUA):c.784del (p.His262fs)	rs757928590
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)	rs748239393

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