ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A

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Total variants: 11
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HGVS dbSNP
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930

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