ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 1 by Pangenia Genomics, Pangenia Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00002

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