List of variants reported as pathogenic for Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
IRF2BPL, 2-BP DEL, 2135GT
NM_024496.4(IRF2BPL):c.1115C>G (p.Pro372Arg)	rs1555377336
NM_024496.4(IRF2BPL):c.1254G>C (p.Lys418Asn)	rs201073695
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter)	rs1555377483
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter)	rs1292724234
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)	rs1345176461
NM_024496.4(IRF2BPL):c.962del (p.Ala321fs)	rs1566786207

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