ClinVar Miner

List of variants in gene combination GALT, LOC130001683 reported as pathogenic for Galactosemia

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Gene type: Distinguish antisense genes from sense genes
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_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.252+1G>A	rs768154316	0.00001

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