ClinVar Miner

List of variants studied for Neurodevelopmental disorder by SIB Swiss Institute of Bioinformatics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr) rs376670648 0.00001
NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His) rs2502301063

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