ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities by Centre de recherche CHU de Quebec-Universite Laval, Laval University

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)	rs145372387	0.00005

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