ClinVar Miner

List of variants in gene NRL, PCK2 studied 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
NM_004563.4(PCK2):c.1468+2T>C rs148019349
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098
NM_004563.4(PCK2):c.1907G>A (p.Arg636His)
NM_004563.4(PCK2):c.287G>A (p.Arg96His)
NM_004563.4(PCK2):c.362= (p.Pro121=)
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842

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