ClinVar Miner

List of variants in gene GALK1 reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000154.2(GALK1):c.166-1G>C rs142772020 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 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
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.166-5_227dup rs2143605351
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter) rs761638957
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) rs2061599016
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter) rs2061598873
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
NM_000154.2(GALK1):c.350del (p.Tyr117fs)
NM_000154.2(GALK1):c.355+1G>A
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.403del (p.Leu135fs)
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter) rs2143603585
NM_000154.2(GALK1):c.475+1G>A
NM_000154.2(GALK1):c.476-2A>G
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter) rs575077063
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
NM_000154.2(GALK1):c.573del (p.Met192fs)
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.612-1G>T
NM_000154.2(GALK1):c.686dup (p.His229fs)
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter) rs1599335132
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter) rs2061592335
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000154.2(GALK1):c.945-36_992del rs2143586633

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