ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 298
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HGVS dbSNP
NC_000009.11:g.(?_131375660)_(131375764_?)del
NM_001130438.2(SPTAN1):c.-139A>G rs886063495
NM_001130438.2(SPTAN1):c.3580-5_3580-2delCCTA rs754528571
NM_001130438.3(SPTAN1):c.*166A>G rs886063512
NM_001130438.3(SPTAN1):c.*20A>G rs886063511
NM_001130438.3(SPTAN1):c.*284A>G rs886063513
NM_001130438.3(SPTAN1):c.*46C>T rs367989148
NM_001130438.3(SPTAN1):c.-12C>A rs886063499
NM_001130438.3(SPTAN1):c.-27A>G rs886063498
NM_001130438.3(SPTAN1):c.-71C>T rs886063497
NM_001130438.3(SPTAN1):c.-73C>T rs886063496
NM_001130438.3(SPTAN1):c.-74C>T rs539544825
NM_001130438.3(SPTAN1):c.-77A>G rs570950377
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
NM_001130438.3(SPTAN1):c.1221+11C>G rs113357847
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe) rs794727023
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.1371G>T (p.Glu457Asp)
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His) rs201948749
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
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.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser) rs1003067844
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886
NM_001130438.3(SPTAN1):c.1697G>C (p.Arg566Pro) rs370304886
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=) rs1564223914
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) rs745720603
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.1807-11T>C rs139049596
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val) rs1057524587
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys)
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879
NM_001130438.3(SPTAN1):c.2037G>C (p.Gln679His) rs777716023
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn)
NM_001130438.3(SPTAN1):c.2193+4G>A
NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn) rs1554735370
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) rs1129922
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr) rs1060503490
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly) rs775545003
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2645G>A (p.Arg882His) rs1486021166
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp) rs886063502
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.2871+8T>C rs1485998372
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.2940G>C (p.Glu980Asp) rs886063503
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu) rs370748662
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr) rs779759134
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.3133C>T (p.Arg1045Trp) rs794727356
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161
NM_001130438.3(SPTAN1):c.3262G>A (p.Glu1088Lys) rs780374369
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
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.3490G>A (p.Ala1164Thr) rs796053316
NM_001130438.3(SPTAN1):c.3495G>A (p.Glu1165=) rs886063504
NM_001130438.3(SPTAN1):c.3519+5G>T rs915019884
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
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.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
NM_001130438.3(SPTAN1):c.3669G>C (p.Glu1223Asp) rs747129367
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val) rs886043530
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
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.4133T>C (p.Leu1378Pro) rs776728710
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
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.4309C>T (p.Arg1437Cys) rs373033857
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719
NM_001130438.3(SPTAN1):c.4344+8T>C rs886063505
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs) rs1564280617
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696
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.4558G>A (p.Gly1520Arg) rs374801331
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys) rs796053317
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4596-5T>C
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212
NM_001130438.3(SPTAN1):c.4758+3A>C
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro) rs1554759970
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu) rs1312145167
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=) rs886063506
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.505-14T>C rs372907681
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5206G>C (p.Asp1736His)
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu) rs779973472
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900
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.5545C>T (p.Arg1849Trp) rs148402616
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
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.5907T>C (p.Ala1969=) rs768986492
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) rs1554766334
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302
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.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro) rs1564315528
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln) rs370102482
NM_001130438.3(SPTAN1):c.6273_6274delinsTT (p.Arg2092Cys) rs796053333
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His) rs1301624113
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.6319G>A (p.Ala2107Thr) rs1131691448
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.6408G>C (p.Glu2136Asp) rs199930602
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324
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.6496C>T (p.Arg2166Cys) rs775190610
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.6532G>A (p.Glu2178Lys) rs886063508
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp) rs1057524104
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr) rs886043546
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=) rs762644827
NM_001130438.3(SPTAN1):c.6762+3_6762+6del rs1554768212
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr) rs796053326
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
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.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.7013+7T>C rs776507647
NM_001130438.3(SPTAN1):c.7014-16_7014-13delinsAGGT rs796053336
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7121C>G (p.Pro2374Arg) rs796053330
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
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.7233C>T (p.Ser2411=) rs138985089
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.7305C>T (p.Tyr2435=) rs527570862
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292
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.7390G>A (p.Ala2464Thr)
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085
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.761C>A (p.Ala254Glu) rs794727784
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.872del (p.Gln291fs) rs1564211389
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
NM_001130438.3(SPTAN1):c.922G>A (p.Glu308Lys) rs886063500
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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