List of variants in gene SPTAN1 reported as pathogenic for Neuronopathy, distal hereditary motor, autosomal dominant 11

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.2848C>T (p.Arg950Ter)
NM_001130438.3(SPTAN1):c.3706C>T (p.Gln1236Ter)
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)	rs1851109762
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)	rs2131635386
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)	rs2542207780
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)	rs1859856446

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