ClinVar Miner

List of variants in gene GALK1 reported as uncertain significance for Deficiency of galactokinase

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Total variants: 87
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HGVS dbSNP gnomAD frequency
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.864G>C (p.Thr288=) rs201247556 0.00083
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
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.*85C>T rs542735255 0.00026
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.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503 0.00009
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000154.2(GALK1):c.267G>T (p.Gln89His) rs144915547 0.00006
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp) rs541580127 0.00006
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131 0.00005
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432 0.00005
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665 0.00005
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240 0.00003
NM_000154.2(GALK1):c.382G>A (p.Val128Met) rs767156604 0.00003
NM_000154.2(GALK1):c.552C>G (p.Ile184Met) rs773416476 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000154.2(GALK1):c.1025G>A (p.Arg342His) rs867405975 0.00002
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426 0.00002
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys) rs371641311 0.00002
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059 0.00002
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln) rs779054525 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly) rs201681295 0.00002
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu) rs766223704 0.00001
NM_000154.2(GALK1):c.1057G>A (p.Val353Met) rs749948423 0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln) rs538714933 0.00001
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser) rs773416475 0.00001
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg) rs201811960 0.00001
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser) rs371755069 0.00001
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586 0.00001
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu) rs754230597 0.00001
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln) rs572575400 0.00001
NM_000154.2(GALK1):c.321C>T (p.Ala107=) rs771880802 0.00001
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg) rs555279924 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp) rs771717336 0.00001
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) rs575139300 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu) rs558638718 0.00001
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419 0.00001
NM_000154.2(GALK1):c.-27A>C rs767223937
NM_000154.2(GALK1):c.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr) rs2061563511
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly) rs536478616
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr) rs536209426
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe) rs1185378925
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.163A>G (p.Met55Val) rs925336919
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
NM_000154.2(GALK1):c.37C>A (p.Leu13Met) rs1001223598
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.42C>G (p.Ala14=) rs905607688
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser) rs104894572
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
NM_000154.2(GALK1):c.864G>A (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
NM_000154.2(GALK1):c.919A>C (p.Met307Leu) rs2061566977
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg) rs2061565422

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