ClinVar Miner

List of variants in gene GCSH studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
GCSH, COMPLEX REARRANGEMENT (1 patient)
NC_000016.10:g.(?_81082846)_(81096298_?)del
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_004483.4(GCSH):c.293-4T>C rs1555529308
NM_004483.4(GCSH):c.425-1G>T rs386833859
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
NM_004483.5(GCSH):c.149-3T>C
NM_004483.5(GCSH):c.17T>G (p.Val6Gly) rs1567591606
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly) rs546860042
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
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.77G>A (p.Cys26Tyr) rs1443267686
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu) rs1003539348
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847

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