ClinVar Miner

List of variants in gene GSS reported as benign for Gluthathione synthetase deficiency

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000178.4(GSS):c.275+20T>G rs734111 0.68215
NM_000178.4(GSS):c.*90A>G rs35747685 0.00563
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256 0.00073
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949 0.00051
NM_000178.4(GSS):c.*2G>A rs36000727 0.00034
NM_000178.4(GSS):c.129+9del rs768666515
NM_000178.4(GSS):c.491+10del

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