ClinVar Miner

List of variants in gene GCSH reported as 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: 7
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HGVS dbSNP
NM_004483.4(GCSH):c.252T>C (p.Tyr84=) rs8177907
NM_004483.4(GCSH):c.261C>G (p.Leu87=) rs8177908
NM_004483.4(GCSH):c.292+9T>G rs8177909
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847

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