ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014232.3(VAMP2):c.334+12G>C rs75664430 0.20412
NM_014232.3(VAMP2):c.13G>A (p.Ala5Thr) rs1263959393 0.00001
NM_014232.3(VAMP2):c.128_130del rs1598265441
NM_014232.3(VAMP2):c.132CAT[1] (p.Ile45del) rs1598265438
NM_014232.3(VAMP2):c.175_177del (p.Lys59del)
NM_014232.3(VAMP2):c.221C>T (p.Ala74Val) rs1983316869
NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro) rs1598265387
NM_014232.3(VAMP2):c.226C>T (p.Gln76Ter) rs2507691218
NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser) rs1598265384
NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala) rs1598265382

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