ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 65

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Total variants: 9
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NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg)
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163

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