ClinVar Miner

List of variants in gene GCSH reported as likely benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_004483.4(GCSH):c.293-4T>C rs1555529308
NM_004483.5(GCSH):c.72G>T (p.Ala24=) rs1010129827
NM_004483.5(GCSH):c.75C>T (p.Pro25=) rs958918692
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594

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