ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign for Early infantile epileptic encephalopathy

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr) rs1214164128
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=) rs1554746826
NM_001130438.3(SPTAN1):c.2560+8del rs768243872
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2778+8G>C rs375037363
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=) rs756378105
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=) rs749251486
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676
NM_001130438.3(SPTAN1):c.3414+3A>G rs1554752325
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=) rs1554758298
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=) rs539062498
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.505-4A>T rs377129746
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=) rs749391487
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=) rs755434212
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=) rs1060504931
NM_001130438.3(SPTAN1):c.5993-9G>A rs761329975
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=) rs1310120255
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=) rs537595625
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=) rs76767787
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile) rs761874094
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509

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