ClinVar Miner

List of variants reported for Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu)	rs1307746359	0.00001
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro)	rs1943259006

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