ClinVar Miner

List of variants studied for Neurodevelopmental disorder with seizures and brain atrophy by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) rs762553587 0.00002
NM_001013839.4(EXOC7):c.809-2A>G rs1310629937 0.00001
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) rs2067339335
NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) rs759489151

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