ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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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.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
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.479C>A (p.Ser160Ter)
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.944+1G>T rs113464656

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