List of variants reported as pathogenic for Neurodevelopmental disorder with progressive spasticity and brain abnormalities

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_021937.5(EEFSEC):c.854G>A (p.Arg285Gln)	rs140543627	0.00060
NM_021937.5(EEFSEC):c.1278C>A (p.Cys426Ter)
NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)	rs765639766
NM_021937.5(EEFSEC):c.1A>G (p.Met1Val)
NM_021937.5(EEFSEC):c.580C>A (p.Pro194Thr)

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