ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Broad Institute Rare Disease Group,Broad Institute

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_004531.5(MOCS2):c.-646G>A rs1273139451

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