List of variants reported as pathogenic for galactosemia by Counsyl

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)	rs111033608	0.00009
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000155.4(GALT):c.329-2A>C	rs111033667	0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695	0.00001
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)	rs1554709366
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)	rs111033758
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)	rs111033791

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