ClinVar Miner

List of variants in gene SPTAN1 reported as likely pathogenic for Early infantile epileptic encephalopathy with suppression bursts

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3520-2A>G
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys) rs2131744077
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6959+1G>T
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386

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