ClinVar Miner

List of variants in gene GALK1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_000154.2(GALK1):c.*85C>T rs542735255
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.-27A>C
NM_000154.2(GALK1):c.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.-44C>T rs758902207
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
NM_000154.2(GALK1):c.165+6G>A rs779996721
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) rs575139300
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419

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