ClinVar Miner

List of variants studied for Glutathione synthetase deficiency without 5-oxoprolinuria

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000178.4(GSS):c.275+20T>G rs734111 0.68215
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_000178.4(GSS):c.351+1_351+14dup

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