ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
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_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_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_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943

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