ClinVar Miner

List of variants reported as uncertain significance for Maple syrup urine disease, mild variant by Institute of Human Genetics, University of Goettingen

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005881.4(BCKDK):c.486C>A (p.His162Gln)	rs2544147133

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