ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.423-1G>A rs2143002474

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