ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
NM_000154.2(GALK1):c.530del (p.Phe177fs)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs)
NM_000154.2(GALK1):c.761del (p.Ser254fs) rs1599335144
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576

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