List of variants reported as uncertain significance for galactosemia by Revvity Omics, Revvity

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)	rs149825190	0.00066
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)	rs759284637	0.00002
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)	rs111033666	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000155.4(GALT):c.875C>T (p.Thr292Met)	rs369227288	0.00001
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
NM_000155.4(GALT):c.748C>T (p.Pro250Ser)

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