List of variants in gene SPTAN1 reported as uncertain significance for Developmental and epileptic encephalopathy, 5; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu)	rs780303413	0.00002
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys)	rs794727910	0.00001
NM_001130438.3(SPTAN1):c.1093C>T (p.Arg365Cys)
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2158C>G (p.His720Asp)

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