ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-IV-A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)	rs768180795	0.00005
NM_000512.5(GALNS):c.121-7C>G	rs1004936255

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