ClinVar Miner

List of variants reported as pathogenic for Galactosemia by Centogene AG - the Rare Disease Company

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.377+1G>T	rs111033681

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