ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.504+159_504+160insGC rs767942809 0.02581
NM_001130438.3(SPTAN1):c.504+161_504+162insC rs761013466 0.02581
NM_001130438.3(SPTAN1):c.504+162_504+163insCTCTAG rs757456517 0.02580
NM_001130438.3(SPTAN1):c.504+157_504+158insCTCTCCAGCTCTCC rs765490751 0.02579
NM_001130438.3(SPTAN1):c.6576+284C>T rs117848582 0.01948
NM_001130438.3(SPTAN1):c.3415-125T>C rs868454686 0.01931
NM_001130438.3(SPTAN1):c.3415-305T>C rs112479500 0.01743
NM_001130438.3(SPTAN1):c.5601-319C>T rs140253935 0.01321
NM_001130438.3(SPTAN1):c.5358-195A>G rs77926333 0.01278
NM_001130438.3(SPTAN1):c.3520-214T>A rs35249383 0.01223
NM_001130438.3(SPTAN1):c.5734-234G>T rs117190550 0.01086
NM_001130438.3(SPTAN1):c.6577-145C>T rs148933269 0.00999
NM_001130438.3(SPTAN1):c.6576+193C>A rs116561220 0.00966
NM_001130438.3(SPTAN1):c.3579+114G>A rs117664291 0.00961
NM_001130438.3(SPTAN1):c.2011+125A>C rs118148397 0.00941
NM_001130438.3(SPTAN1):c.2194-89G>A rs28605457 0.00934
NM_001130438.3(SPTAN1):c.6762+151A>C rs139321348 0.00904
NM_001130438.3(SPTAN1):c.1085+113A>G rs945829 0.00800
NM_001130438.3(SPTAN1):c.6576+130T>C rs182480392 0.00720
NM_001130438.3(SPTAN1):c.1572+143A>G rs114952624 0.00695
NM_001130438.3(SPTAN1):c.7308+30T>C rs138965195 0.00682
NM_001130438.3(SPTAN1):c.3579+228A>G rs78117059 0.00665
NM_001130438.3(SPTAN1):c.1085+70_1085+71insCTTC rs138499933 0.00654
NM_001130438.3(SPTAN1):c.1222-95A>G rs112047036 0.00651
NM_001130438.3(SPTAN1):c.3579+258G>A rs113208670 0.00649
NM_001130438.3(SPTAN1):c.3579+164G>C rs75537926 0.00648
NM_001130438.3(SPTAN1):c.5149-187G>A rs79176107 0.00647
NM_001130438.3(SPTAN1):c.4046+155T>A rs111846527 0.00646
NM_001130438.3(SPTAN1):c.5478+83A>G rs112462793 0.00643
NM_001130438.3(SPTAN1):c.1462-297A>C rs12002404 0.00640
NM_001130438.3(SPTAN1):c.4492-183A>G rs140456277 0.00635
NM_001130438.3(SPTAN1):c.237+216G>A rs57777140 0.00540
NM_001130438.3(SPTAN1):c.1573-250G>A rs185379907 0.00538
NM_001130438.3(SPTAN1):c.7014-31C>G rs112372253 0.00524
NM_001130438.3(SPTAN1):c.5601-167C>T rs572863471 0.00483
NM_001130438.3(SPTAN1):c.651+271T>C rs79677350 0.00476
NM_001130438.3(SPTAN1):c.7308+50C>T rs116114254 0.00436
NM_001130438.3(SPTAN1):c.3720-206G>A rs12351128 0.00427
NM_001130438.3(SPTAN1):c.1323+65A>G rs148439588 0.00405
NM_001130438.3(SPTAN1):c.1462-293del rs1195834537 0.00405
NM_001130438.3(SPTAN1):c.3628-199T>C rs147717209 0.00398
NM_001130438.3(SPTAN1):c.2872-209C>T rs145971007 0.00392
NM_001130438.3(SPTAN1):c.3627+164C>T rs115221736 0.00369
NM_001130438.3(SPTAN1):c.5148+327C>T rs138576972 0.00367
NM_001130438.3(SPTAN1):c.7160+27G>A rs143392181 0.00367
NM_001130438.3(SPTAN1):c.5600+199T>A rs151206158 0.00364
NM_001130438.3(SPTAN1):c.1085+35T>C rs116465900 0.00362
NM_001130438.3(SPTAN1):c.6279+67G>C rs145283248 0.00346
NM_001130438.3(SPTAN1):c.6707+80G>C rs375648005 0.00328
NM_001130438.3(SPTAN1):c.1806+34G>A rs80262973 0.00126
NM_001130438.3(SPTAN1):c.5148+41A>G rs145566452 0.00124
NM_001130438.3(SPTAN1):c.6763-44G>A rs148133620 0.00061
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602 0.00058
NM_001130438.3(SPTAN1):c.2560+36G>A rs186769459 0.00056
NM_001130438.3(SPTAN1):c.786-17G>T rs367832791 0.00056
NM_001130438.3(SPTAN1):c.1650+34T>C rs138030661 0.00054
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618 0.00043
NM_001130438.3(SPTAN1):c.1324-13C>G rs199839122 0.00035
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=) rs201249013 0.00031
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.1651-17G>A rs372860106 0.00027
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651 0.00027
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770 0.00021
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088 0.00020
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342 0.00017
NM_001130438.3(SPTAN1):c.4905+19C>T rs140922514 0.00017
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897 0.00014
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844 0.00014
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855 0.00014
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448 0.00014
NM_001130438.3(SPTAN1):c.413T>C (p.Met138Thr) rs767527240 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658 0.00012
NM_001130438.3(SPTAN1):c.4774-18T>A rs534497861 0.00012
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550 0.00012
NM_001130438.3(SPTAN1):c.1324-12T>C rs371641680 0.00011
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791 0.00011
NM_001130438.3(SPTAN1):c.4147-13C>G rs374834326 0.00011
NM_001130438.3(SPTAN1):c.6576+12G>A rs144725581 0.00011
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=) rs765393647 0.00011
NM_001130438.3(SPTAN1):c.3441G>A (p.Leu1147=) rs113157213 0.00010
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=) rs147815147 0.00010
NM_001130438.3(SPTAN1):c.7013+18C>T rs368329742 0.00010
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.2438-15G>A rs201319189 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293 0.00009
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=) rs773435271 0.00008
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626 0.00008
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala) rs756560952 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289 0.00007
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val) rs139070536 0.00007
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626 0.00006
NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser) rs1003067844 0.00006
NM_001130438.3(SPTAN1):c.2205T>C (p.Asp735=) rs781437907 0.00006
NM_001130438.3(SPTAN1):c.238-9C>T rs367687143 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=) rs373857333 0.00006
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=) rs760243298 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543 0.00005
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=) rs758017157 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912 0.00005
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065 0.00004
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=) rs185614333 0.00004
NM_001130438.3(SPTAN1):c.1536T>C (p.Phe512=) rs762887917 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574 0.00004
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=) rs935038001 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.4345-14C>T rs201755611 0.00004
NM_001130438.3(SPTAN1):c.603T>C (p.His201=) rs370807034 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001130438.3(SPTAN1):c.6762+11G>A rs775553506 0.00004
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=) rs755559513 0.00004
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=) rs750291744 0.00004
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509 0.00004
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940 0.00004
NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=) rs148984013 0.00004
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=) rs766927132 0.00004
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=) rs750970364 0.00003
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn) rs773663318 0.00003
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=) rs748193081 0.00003
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.4905+7C>T rs752304112 0.00003
NM_001130438.3(SPTAN1):c.4906-15C>T rs756241253 0.00003
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532 0.00003
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472 0.00003
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=) rs759088264 0.00003
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008 0.00003
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095 0.00003
NM_001130438.3(SPTAN1):c.6689+10C>T rs769263723 0.00003
NM_001130438.3(SPTAN1):c.6762+10C>T rs367706466 0.00003
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=) rs577730526 0.00003
NM_001130438.3(SPTAN1):c.6959+15T>C rs776795375 0.00003
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685 0.00003
NM_001130438.3(SPTAN1):c.6959+7G>A rs373990901 0.00003
NM_001130438.3(SPTAN1):c.7014-16C>T rs137913528 0.00003
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=) rs369792563 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.126T>C (p.Asp42=) rs547012864 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln) rs760552878 0.00002
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=) rs374478564 0.00002
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr) rs755356541 0.00002
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=) rs755933560 0.00002
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903 0.00002
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803 0.00002
NM_001130438.3(SPTAN1):c.5358-18T>A rs754212051 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507 0.00002
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=) rs1057522086 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=) rs551663711 0.00002
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=) rs771456936 0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val) rs368876195 0.00001
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=) rs193111526 0.00001
NM_001130438.3(SPTAN1):c.1357C>T (p.Leu453=) rs200827350 0.00001
NM_001130438.3(SPTAN1):c.1520A>C (p.Lys507Thr) rs375343189 0.00001
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=) rs763879792 0.00001
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=) rs1057520489 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=) rs587784432 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.1869A>T (p.Ala623=) rs1057523195 0.00001
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536 0.00001
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His) rs370062384 0.00001
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg) rs759274173 0.00001
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=) rs1329573763 0.00001
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=) rs754228048 0.00001
NM_001130438.3(SPTAN1):c.2552T>C (p.Val851Ala) rs748110014 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=) rs761166458 0.00001
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu) rs370748662 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys) rs200872929 0.00001
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu) rs1334812460 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543 0.00001
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=) rs745997127 0.00001
NM_001130438.3(SPTAN1):c.3865-7C>T rs1248978165 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.4555A>G (p.Lys1519Glu) rs576419070 0.00001
NM_001130438.3(SPTAN1):c.4596-19C>G rs1317299803 0.00001
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212 0.00001
NM_001130438.3(SPTAN1):c.505-18C>T rs1057522078 0.00001
NM_001130438.3(SPTAN1):c.5148+17G>A rs758490204 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=) rs777780283 0.00001
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=) rs1060504931 0.00001
NM_001130438.3(SPTAN1):c.6055C>A (p.Leu2019Ile) rs796053310 0.00001
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393 0.00001
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr) rs762645157 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482 0.00001
NM_001130438.3(SPTAN1):c.6420C>T (p.Ala2140=) rs1442533335 0.00001
NM_001130438.3(SPTAN1):c.652-5T>C rs1029752624 0.00001
NM_001130438.3(SPTAN1):c.6599A>G (p.Lys2200Arg) rs1327555124 0.00001
NM_001130438.3(SPTAN1):c.6708-6G>A rs375772117 0.00001
NM_001130438.3(SPTAN1):c.6763-12C>T rs774215534 0.00001
NM_001130438.3(SPTAN1):c.6959+5C>G rs1057523269 0.00001
NM_001130438.3(SPTAN1):c.7013+19G>A rs370654629 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7260C>T (p.Ala2420=) rs760748641 0.00001
NM_001130438.3(SPTAN1):c.785+12G>C rs774982401 0.00001
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070 0.00001
NM_001130438.3(SPTAN1):c.*148C>T rs113912557
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA rs1554742449
NM_001130438.3(SPTAN1):c.1112G>A (p.Arg371His) rs1554742488
NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=) rs1057523805
NM_001130438.3(SPTAN1):c.1221+115T>A rs1890103
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.1338C>G (p.Ser446=) rs185614333
NM_001130438.3(SPTAN1):c.1462-293_1462-291del rs1171484214
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1584A>G (p.Glu528=) rs767443717
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1807-17C>T rs1057524223
NM_001130438.3(SPTAN1):c.1807-7T>G rs1554745600
NM_001130438.3(SPTAN1):c.2011+30G>A rs76351026
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.237+300TTTTG[3] rs537687332
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2463T>C (p.Asn821=) rs2131169854
NM_001130438.3(SPTAN1):c.2560+189del rs11382658
NM_001130438.3(SPTAN1):c.2778+10C>A rs369106919
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=) rs1057522083
NM_001130438.3(SPTAN1):c.2857G>T (p.Ala953Ser) rs796053300
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro) rs796053301
NM_001130438.3(SPTAN1):c.2871+141ATTT[7] rs573630377
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln) rs1057521149
NM_001130438.3(SPTAN1):c.3006+317C>T rs117975373
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr) rs779759134
NM_001130438.3(SPTAN1):c.3118G>A (p.Gly1040Ser) rs796053302
NM_001130438.3(SPTAN1):c.3155+17G>T rs765814431
NM_001130438.3(SPTAN1):c.3155+305C>T rs112366038
NM_001130438.3(SPTAN1):c.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=) rs1182605348
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=) rs1589272670
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu) rs796053304
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg) rs796053305
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser) rs796053306
NM_001130438.3(SPTAN1):c.3720-99TAAA[8] rs544418154
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=) rs1589296272
NM_001130438.3(SPTAN1):c.3891G>A (p.Glu1297=) rs774930310
NM_001130438.3(SPTAN1):c.3967A>G (p.Ser1323Gly) rs796053307
NM_001130438.3(SPTAN1):c.4083G>A (p.Leu1361=) rs1057523448
NM_001130438.3(SPTAN1):c.4146+20delinsAC rs1554757479
NM_001130438.3(SPTAN1):c.4147-13C>T rs374834326
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=) rs754607337
NM_001130438.3(SPTAN1):c.4288C>G (p.Leu1430Val) rs1057523806
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=) rs755612920
NM_001130438.3(SPTAN1):c.4774-12del rs1064795314
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=) rs759241143
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=) rs1057522726
NM_001130438.3(SPTAN1):c.4905+19dup rs763250092
NM_001130438.3(SPTAN1):c.4925C>A (p.Ala1642Asp) rs1057522444
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.505-20C>T rs779640676
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=) rs777942959
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=) rs1057524335
NM_001130438.3(SPTAN1):c.5350T>C (p.Trp1784Arg) rs796053309
NM_001130438.3(SPTAN1):c.5358-5T>A rs1057524585
NM_001130438.3(SPTAN1):c.5379C>T (p.Gly1793=) rs1554763002
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=) rs776079416
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=) rs1057522205
NM_001130438.3(SPTAN1):c.5688C>A (p.Thr1896=) rs749391487
NM_001130438.3(SPTAN1):c.5733+12A>G rs769356785
NM_001130438.3(SPTAN1):c.5734-11T>G rs1057521318
NM_001130438.3(SPTAN1):c.5992+224C>T rs376940683
NM_001130438.3(SPTAN1):c.5993-10C>G rs773841663
NM_001130438.3(SPTAN1):c.6069+7C>T rs1554766358
NM_001130438.3(SPTAN1):c.6070-12C>T rs771489152
NM_001130438.3(SPTAN1):c.6090G>A (p.Leu2030=) rs761497643
NM_001130438.3(SPTAN1):c.6193T>C (p.Ser2065Pro) rs796053311
NM_001130438.3(SPTAN1):c.6247_6248delinsCT (p.Lys2083Leu) rs1064794380
NM_001130438.3(SPTAN1):c.6319G>A (p.Ala2107Thr) rs1131691448
NM_001130438.3(SPTAN1):c.6343G>T (p.Ala2115Ser) rs1057522441
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys) rs780696613
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6577-10del rs1064794959
NM_001130438.3(SPTAN1):c.6577-13dup rs761170802
NM_001130438.3(SPTAN1):c.6703G>A (p.Asp2235Asn) rs1085307862
NM_001130438.3(SPTAN1):c.6707+10_6707+12delinsTTC rs1589395833
NM_001130438.3(SPTAN1):c.6762+152TC[4] rs34039280
NM_001130438.3(SPTAN1):c.6762+273C>G rs28562867
NM_001130438.3(SPTAN1):c.6959+5C>T rs1057523269
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=) rs1276832919
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.727C>G (p.Leu243Val) rs1462279694
NM_001130438.3(SPTAN1):c.7308+9del rs1191675267
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys) rs1850092105
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=) rs1554741933

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