ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA

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Total variants: 11
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NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)
NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)
NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg) rs1596711175
NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) rs1567198751
NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln) rs1596780112
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln) rs1163583945
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_015133.5(MAPK8IP3):c.79G>T (p.Glu27Ter) rs1479142047

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