ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Centre for Human Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.208del (p.Trp70fs)	rs2056023141
NM_000151.4(G6PC1):c.355C>G (p.His119Asp)	rs1332616844
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter)	rs2056081389
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)	rs2056082144
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)	rs1410392732

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