ClinVar Miner

List of variants studied for Galactosemia by Illumina Laboratory Services, Illumina

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)	rs1473851511

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