List of variants in gene NFU1 reported as pathogenic for SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	rs201634470	0.00004
NM_001002755.4(NFU1):c.398T>C (p.Leu133Pro)	rs770896590	0.00001
NFU1, 1-BP DEL, 146C
NM_001002755.4(NFU1):c.263T>C (p.Phe88Ser)
NM_001002755.4(NFU1):c.295C>G (p.Leu99Val)
NM_001002755.4(NFU1):c.298G>C (p.Ala100Pro)	rs1279585557
NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly)	rs2104792930
NM_001002755.4(NFU1):c.362T>C (p.Val121Ala)
NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg)	rs1156891721
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490
NM_001002755.4(NFU1):c.721G>C (p.Val241Leu)

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