ClinVar Miner

List of variants reported as uncertain significance for homocystinuria by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) rs1570478057
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492

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