List of variants reported as likely benign for galactosemia by Natera, Inc.

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		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.652C>T (p.Leu218=)	rs2070075	0.02537
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)	rs145641205	0.00200
NM_000154.2(GALK1):c.1167G>A (p.Val389=)	rs150586960	0.00113
NM_000154.2(GALK1):c.864G>C (p.Thr288=)	rs201247556	0.00083
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)	rs149825190	0.00066
NM_000154.2(GALK1):c.611+9C>T	rs370204015	0.00064
NM_000154.2(GALK1):c.432C>T (p.Ser144=)	rs150323432	0.00058
NM_000154.2(GALK1):c.747G>A (p.Ala249=)	rs140053358	0.00037
NM_000155.4(GALT):c.498T>C (p.Pro166=)	rs193922249	0.00029
NM_000154.2(GALK1):c.-22T>C	rs545362817	0.00026
NM_000154.2(GALK1):c.447G>A (p.Thr149=)	rs765744088	0.00024
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)	rs372653001	0.00012
NM_000154.2(GALK1):c.60C>T (p.Phe20=)	rs556192480	0.00009
NM_000154.2(GALK1):c.657C>T (p.Ala219=)	rs754593748	0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=)	rs781374930	0.00006
NM_000154.2(GALK1):c.1077C>T (p.Ser359=)	rs376050836	0.00004
NM_000154.2(GALK1):c.948C>T (p.Asp316=)	rs370706611	0.00002
NM_000154.2(GALK1):c.291C>G (p.Arg97=)	rs368542855	0.00001
NM_000154.2(GALK1):c.858G>A (p.Arg286=)	rs1349483506	0.00001
NM_000155.4(GALT):c.366T>G (p.Ala122=)	rs777382338	0.00001
NM_000155.4(GALT):c.762G>A (p.Leu254=)	rs748639317	0.00001
NM_000154.2(GALK1):c.363C>A (p.Pro121=)	rs779234943
NM_000155.4(GALT):c.414G>A (p.Thr138=)	rs116479817
NM_000155.4(GALT):c.414G>T (p.Thr138=)	rs116479817
NM_000155.4(GALT):c.480G>A (p.Glu160=)	rs1587238612

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