ClinVar Miner

List of variants in gene NIPA1 reported as likely benign for Spastic paraplegia, autosomal dominant

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Total variants: 8
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HGVS dbSNP
NM_144599.5(NIPA1):c.*1007dup rs548458173
NM_144599.5(NIPA1):c.*1925_*1929del rs199507682
NM_144599.5(NIPA1):c.*2816del rs140112208
NM_144599.5(NIPA1):c.*3112dup rs556665515
NM_144599.5(NIPA1):c.*3127G>A rs547238314
NM_144599.5(NIPA1):c.24_26GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24_26GGC[7] (p.Ala16del) rs531550505
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456

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