ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947

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