ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 1 by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1727+1G>A rs1577544451

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