List of variants reported as pathogenic for Deficiency of galactokinase by Baylor Genetics

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Total variants: 5

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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.1036G>A (p.Gly346Ser)	rs375690568	0.00007
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)	rs775843885

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