ClinVar Miner

List of variants in gene PCK1 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_002591.4(PCK1):c.*120T>G rs1042531
NM_002591.4(PCK1):c.*359G>A rs3211338
NM_002591.4(PCK1):c.*431T>C rs28359554
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) rs1804160
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756
NM_002591.4(PCK1):c.12G>A (p.Gln4=) rs28383584
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002591.4(PCK1):c.282C>T (p.Ile94=) rs6070157
NM_002591.4(PCK1):c.453G>A (p.Ser151=) rs1062600
NM_002591.4(PCK1):c.462A>G (p.Ser154=) rs1042523
NM_002591.4(PCK1):c.489A>G (p.Ser163=) rs1062601
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555
NM_002591.4(PCK1):c.69A>G (p.Leu23=) rs1042521
NM_002591.4(PCK1):c.705C>T (p.Tyr235=) rs28359544
NM_002591.4(PCK1):c.799A>G (p.Ile267Val) rs8192708
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys) rs11552145
NM_002591.4(PCK1):c.873C>T (p.Thr291=) rs28359547

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