ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)

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