List of variants reported as benign for Deficiency of galactokinase by Invitae

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.189G>A (p.Leu63=)	rs7211385	0.03914
NM_000154.2(GALK1):c.957G>A (p.Glu319=)	rs76160162	0.00410
NM_000154.2(GALK1):c.1107+5G>A	rs201663491	0.00297
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)	rs145641205	0.00200
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)	rs201972845	0.00173
NM_000154.2(GALK1):c.611+18C>T	rs188851202	0.00140
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.611+9C>T	rs370204015	0.00064
NM_000154.2(GALK1):c.-22T>C	rs545362817	0.00026
NM_000154.2(GALK1):c.987G>A (p.Val329=)	rs184160171	0.00018
NM_000154.2(GALK1):c.840C>T (p.His280=)	rs375779311	0.00009
NM_000154.2(GALK1):c.165+8dup

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