ClinVar Miner

List of variants studied for congenital disorder of glycosylation with defective fucosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_004480.4(FUT8):c.226C>T (p.Arg76Ter) rs1460811017
NM_004480.4(FUT8):c.454C>T (p.Arg152Ter) rs1334593208
NM_004480.4(FUT8):c.520C>G (p.Arg174Gly) rs1297536872
NM_004480.4(FUT8):c.770+5G>T rs1555388034

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