ClinVar Miner

List of variants studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile) rs751496233 0.00002
NM_001042681.2(RERE):c.2861C>T (p.Pro954Leu) rs1641529917
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637

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