ClinVar Miner

List of variants in gene GNS 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: 14
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NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) rs483352899
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.1169del (p.Gln390fs) rs483352898
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
NM_002076.4(GNS):c.1226dup (p.Ser410fs) rs483352900
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
NM_002076.4(GNS):c.355del (p.Ser119fs)
NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
NM_002076.4(GNS):c.638del (p.Leu213fs)
NM_002076.4(GNS):c.814C>T (p.Gln272Ter) rs1365770233
NM_002076.4(GNS):c.887_888del (p.Leu296fs)

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