ClinVar Miner

List of variants in gene GLS studied for Developmental and epileptic encephalopathy, 71

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014905.5(GLS):c.7C>T (p.Arg3Trp) rs867993124 0.00001
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg) rs2470308961
NM_014905.5(GLS):c.1460dup (p.Ile488fs) rs2124915767
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys) rs112403775
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120

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