ClinVar Miner

List of variants in gene SPTAN1 studied for Early infantile epileptic encephalopathy

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Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP
NC_000009.11:g.(?_131375660)_(131375764_?)del
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His) rs201948749
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu)
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys) rs759822213
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr) rs1214164128
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr) rs1060503490
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=) rs1554746826
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794
NM_001130438.3(SPTAN1):c.2560+8del rs768243872
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521
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.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607
NM_001130438.3(SPTAN1):c.2778+8G>C rs375037363
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
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.3051G>A (p.Pro1017=) rs140279996
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.3088G>C (p.Ala1030Pro) rs1554751018
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.3(SPTAN1):c.3414+3A>G rs1554752325
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys) rs1379161622
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr) rs564155435
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.3(SPTAN1):c.4046+6G>A
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys) rs1564278853
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp) rs150944593
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
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.4243G>C (p.Glu1415Gln)
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr)
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
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.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro) rs1060503491
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=) rs1554758298
NM_001130438.3(SPTAN1):c.4758+3A>C
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.4918G>C (p.Ala1640Pro) rs1554759970
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823
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.5085= (p.Leu1695=) rs1415568
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser) rs1287628912
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val) rs781083220
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
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.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr) rs878854246
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn) rs778709187
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
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.6111C>T (p.Gly2037=) rs139799727
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.6159C>T (p.His2053=) rs150902677
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482
NM_001130438.3(SPTAN1):c.6280-5T>A rs746651127
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=) rs1554766786
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His) rs763928650
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.6470A>G (p.Glu2157Gly)
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589
NM_001130438.3(SPTAN1):c.6762+3_6762+6del rs1554768212
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=) rs76767787
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6959+4C>T
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.3(SPTAN1):c.7161-9C>G
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val) rs768195496
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
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.7366G>A (p.Gly2456Ser) rs199866550
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys) rs1160694512
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136

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