List of variants in gene NRL, PCK2 studied for Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)	rs61737098	0.00277
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	rs61752842	0.00208
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)	rs141383988	0.00152
NM_004563.4(PCK2):c.1468+2T>C	rs148019349	0.00110
NM_004563.4(PCK2):c.287G>A (p.Arg96His)	rs770940344	0.00013
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)	rs753706965	0.00005
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)	rs746104381	0.00004
NM_001354768.3(NRL):c.-28+11215dup	rs61497654
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)	rs201059299
NM_004563.4(PCK2):c.1907G>A (p.Arg636His)	rs145739132
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)	rs771187723

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