ClinVar Miner

List of variants in gene SZT2 reported as likely pathogenic for Early infantile epileptic encephalopathy 18

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Total variants: 3
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NM_001365999.1(SZT2):c.498G>T (p.Gln166His) rs1553138869
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129

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