List of variants in gene NIPA1 studied for Spastic paraplegia, autosomal dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_144599.5(NIPA1):c.2058_2059insTT	rs3057642	0.67258
NM_144599.5(NIPA1):c.*1007dup	rs548458173	0.00118
NM_144599.5(NIPA1):c.1190_1191del	rs764504513	0.00040
NM_144599.5(NIPA1):c.5395_5396del	rs886050987	0.00010
NM_144599.5(NIPA1):c.*3127G>A	rs547238314	0.00007
NM_144599.5(NIPA1):c.*3316T>C	rs527532188	0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=)	rs547634456	0.00006
NM_144599.5(NIPA1):c.1845_1846dup	rs113532349
NM_144599.5(NIPA1):c.*1846dup	rs113532349
NM_144599.5(NIPA1):c.1925_1929del	rs199507682
NM_144599.5(NIPA1):c.*2727dup	rs746846799
NM_144599.5(NIPA1):c.*2816del	rs140112208
NM_144599.5(NIPA1):c.*3112dup	rs556665515
NM_144599.5(NIPA1):c.435_436del	rs10611411
NM_144599.5(NIPA1):c.5474_5477del	rs747886565

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