ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.662_662+8del
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)

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