ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
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Total variants: 24
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HGVS dbSNP
FUCA1, 1-BP DEL, EX2
FUCA1, 1-BP DEL, EX3
FUCA1, 1-BP DEL, EX5
FUCA1, 2-EX DEL
NC_000001.11:g.(?_23859778)_(23859923_?)del
NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter) rs80358197
NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199
NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450
NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter) rs80358196
NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter) rs587779399
NM_000147.4(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.4(FUCA1):c.969+1G>A rs1570679652
NM_000147.5(FUCA1):c.170del (p.Lys57fs)
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
NM_000147.5(FUCA1):c.390-95_768+150del
NM_000147.5(FUCA1):c.662+5G>C
NM_000147.5(FUCA1):c.768+1G>A
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)

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