ClinVar Miner

List of variants studied 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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Total variants: 10
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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)
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281

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