ClinVar Miner

List of variants in gene GK 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: 8
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HGVS dbSNP
NC_000023.11:g.(30700906_30707555)_(30728743_?)del
NC_000023.11:g.(30720096_30720620)_(30720742_30720851)del
NM_000167.5(GK):c.1237C>T (p.Arg413Ter) rs132630329
NM_000167.5(GK):c.1319A>T (p.Asp440Val) rs132630328
NM_000167.5(GK):c.1507T>C (p.Trp503Arg) rs132630330
NM_000167.5(GK):c.553-1G>C rs587776740
NM_000167.5(GK):c.862A>G (p.Asn288Asp) rs132630331
NM_001128127.2(GK):c.42765-52ins316

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