ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	rs144067930	0.00017
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)	rs781439830	0.00001
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)	rs794727625

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