ClinVar Miner

List of variants reported as likely pathogenic for Fructose-biphosphatase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000507.4(FBP1):c.880G>A (p.Gly294Arg)	rs1064795826	0.00001
NM_000507.4(FBP1):c.427-2A>G	rs754248755
NM_000507.4(FBP1):c.568-1G>T
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)	rs762007074

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