ClinVar Miner

List of variants in gene SZT2 reported as uncertain significance for Early infantile epileptic encephalopathy 18

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Total variants: 14
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NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531
NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) rs754599484
NM_001365999.1(SZT2):c.2929+15C>T rs1030508390
NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) rs201767217
NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) rs149741610
NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) rs140004653
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) rs201312287
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp)
NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) rs201099906
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp)
NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) rs201622088
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) rs754779853

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