List of variants in gene FUCA1 reported as benign for carbohydrate metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)	rs13551	0.27120
NM_000147.4(FUCA1):c.-12T>C	rs2070954	0.11405
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)	rs2070955	0.10031
NM_000147.5(FUCA1):c.327G>A (p.Gln109=)	rs61996281	0.00982
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)	rs114490852	0.00944
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=)	rs80358198	0.00136
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)	rs145603001	0.00116
NM_000147.5(FUCA1):c.969+18T>A	rs140246387	0.00041
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg)	rs551560114	0.00003
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)	rs2070956
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)	rs61996282

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