ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000147.4(FUCA1):c.-86T>G rs2070953
NM_000147.4(FUCA1):c.1026T>G (p.Thr342=) rs771696380
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.525-8T>G rs41268125
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.759C>T (p.Ser253=) rs757698879
NM_000147.4(FUCA1):c.778G>A (p.Val260Ile) rs665
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.4(FUCA1):c.969+5G>C rs115939152
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
NM_000147.5(FUCA1):c.663-11A>G

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