ClinVar Miner

List of variants studied for Cataplexy; Cerebellar ataxia; Cognitive impairment; Headache; Speech apraxia; Postural instability by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002

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