ClinVar Miner

List of variants reported as uncertain significance for Phosphoenolpyruvate carboxykinase (GTP) deficiency by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys) rs139008325 0.00006
NM_002591.4(PCK1):c.*349AT[6] rs201179319
NM_002591.4(PCK1):c.*357_*360del rs147972610
NM_002591.4(PCK1):c.*357_*362del rs760440639
NM_002591.4(PCK1):c.*358TG[14] rs141075201
NM_002591.4(PCK1):c.*358TG[15] rs141075201
NM_002591.4(PCK1):c.*358TG[16] rs141075201
NM_002591.4(PCK1):c.*358TG[17] rs141075201
NM_002591.4(PCK1):c.*358TG[19] rs141075201
NM_002591.4(PCK1):c.*358TG[20] rs141075201
NM_002591.4(PCK1):c.*358TG[21] rs141075201
NM_002591.4(PCK1):c.*358TG[24] rs141075201

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