ClinVar Miner

List of variants in gene GALK1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (916):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000154.2(GALK1):c.*32C>T rs116845474
NM_000154.2(GALK1):c.*85C>T rs542735255
NM_000154.2(GALK1):c.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.-44C>T rs758902207
NM_000154.2(GALK1):c.100_101GC[3] (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
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.1089C>T (p.His363=) rs200502537
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.165+6G>A rs779996721
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.511_513CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
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.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.761del (p.Ser254fs)
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
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.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
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.919_921del (p.Met307del) rs1247635972
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419

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