ClinVar Miner

List of variants studied for Deficiency of galactokinase by Natera, Inc.

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Total variants: 41
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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.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.593C>T (p.Ala198Val) rs80084721 0.00124
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.66G>A (p.Glu22=) rs367558510 0.00045
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.987G>A (p.Val329=) rs184160171 0.00018
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503 0.00009
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480 0.00009
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311 0.00009
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748 0.00006
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665 0.00005
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836 0.00004
NM_000154.2(GALK1):c.1025G>A (p.Arg342His) rs867405975 0.00002
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly) rs201681295 0.00002
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611 0.00002
NM_000154.2(GALK1):c.1057G>A (p.Val353Met) rs749948423 0.00001
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506 0.00001
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr) rs2061563511
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.163A>G (p.Met55Val) rs925336919
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.42C>G (p.Ala14=) rs905607688
NM_000154.2(GALK1):c.864G>A (p.Thr288=) rs201247556

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