ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
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.2011+10G>A rs377437879 0.00018
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 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.2888C>T (p.Thr963Met) rs375623472 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.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys) rs373033857 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys) rs779838514 0.00003
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521 0.00003
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161 0.00003
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser) rs139943747 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881 0.00002
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His) rs780184944 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys) rs774559979 0.00002
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6708-1171G>A rs1029370467 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075 0.00001
NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp) rs773019990 0.00001
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) rs745720603 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly) rs374506067 0.00001
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys) rs771925044 0.00001
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly) rs775545003 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp) rs770641858 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3156-11C>G rs781434997 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His) rs1854608331 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170 0.00001
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val) rs886043530 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.4276G>C (p.Glu1426Gln) rs1796996192 0.00001
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg) rs374801331 0.00001
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys) rs796053317 0.00001
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys) rs780433514 0.00001
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu) rs1312145167 0.00001
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302 0.00001
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys) rs752560514 0.00001
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324 0.00001
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr) rs796053326 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser) rs942915357
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
NM_001130438.3(SPTAN1):c.1162G>A (p.Glu388Lys) rs2131029996
NM_001130438.3(SPTAN1):c.1170_1175delinsAAGTGT (p.Asp392Val)
NM_001130438.3(SPTAN1):c.1202A>T (p.Asp401Val) rs2131030682
NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)
NM_001130438.3(SPTAN1):c.1298A>T (p.Tyr433Phe) rs2131062140
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
NM_001130438.3(SPTAN1):c.1306G>C (p.Asp436His)
NM_001130438.3(SPTAN1):c.1308T>G (p.Asp436Glu) rs1048796195
NM_001130438.3(SPTAN1):c.1334T>C (p.Leu445Pro)
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe) rs794727023
NM_001130438.3(SPTAN1):c.1341G>A (p.Glu447=) rs2131088001
NM_001130438.3(SPTAN1):c.1352C>A (p.Ala451Glu)
NM_001130438.3(SPTAN1):c.1366_1374dup (p.Leu458_Arg459insTrpGluLeu)
NM_001130438.3(SPTAN1):c.1383_1384delinsTT (p.Gln461_Gln462delinsHisTer) rs2131088955
NM_001130438.3(SPTAN1):c.1420C>T (p.Arg474Trp) rs1461072315
NM_001130438.3(SPTAN1):c.1445G>T (p.Trp482Leu) rs2131090131
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val) rs1851980146
NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)
NM_001130438.3(SPTAN1):c.1514T>A (p.Leu505His)
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1739G>A (p.Arg580His)
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=) rs1564223914
NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly) rs1589214618
NM_001130438.3(SPTAN1):c.1903G>A (p.Gly635Ser)
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val) rs1057524587
NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile) rs1852167768
NM_001130438.3(SPTAN1):c.2066A>G (p.Asp689Gly)
NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=) rs1589216896
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn) rs191761167
NM_001130438.3(SPTAN1):c.2193+3A>G
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn) rs2131160403
NM_001130438.3(SPTAN1):c.2207G>C (p.Gly736Ala)
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) rs1129922
NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala) rs753016149
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val) rs770359554
NM_001130438.3(SPTAN1):c.2291C>G (p.Ala764Gly)
NM_001130438.3(SPTAN1):c.2298T>A (p.Tyr766Ter) rs2131162364
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.2378T>C (p.Val793Ala)
NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro) rs1447170470
NM_001130438.3(SPTAN1):c.2491G>A (p.Ala831Thr)
NM_001130438.3(SPTAN1):c.2620G>A (p.Ala874Thr)
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
NM_001130438.3(SPTAN1):c.2660A>C (p.Glu887Ala)
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2752T>C (p.Tyr918His) rs1589224403
NM_001130438.3(SPTAN1):c.2779-2A>G
NM_001130438.3(SPTAN1):c.2894A>G (p.Asp965Gly)
NM_001130438.3(SPTAN1):c.2929G>C (p.Asp977His) rs1853044906
NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs) rs2131267665
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys) rs1853536448
NM_001130438.3(SPTAN1):c.3155+3A>G
NM_001130438.3(SPTAN1):c.3171G>T (p.Lys1057Asn)
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys) rs750290385
NM_001130438.3(SPTAN1):c.3391AAG[1] (p.Lys1132del)
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3416A>T (p.Asp1139Val) rs2131437230
NM_001130438.3(SPTAN1):c.3474G>C (p.Glu1158Asp) rs2131437997
NM_001130438.3(SPTAN1):c.3490G>A (p.Ala1164Thr) rs796053316
NM_001130438.3(SPTAN1):c.3569C>A (p.Ser1190Tyr) rs1046110538
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
NM_001130438.3(SPTAN1):c.360A>G (p.Ile120Met)
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.367C>G (p.Arg123Gly)
NM_001130438.3(SPTAN1):c.3796G>A (p.Ala1266Thr) rs1185147138
NM_001130438.3(SPTAN1):c.3868A>C (p.Asn1290His) rs1855684326
NM_001130438.3(SPTAN1):c.3910C>T (p.Pro1304Ser)
NM_001130438.3(SPTAN1):c.3985G>A (p.Asp1329Asn)
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4139G>A (p.Arg1380Gln)
NM_001130438.3(SPTAN1):c.4165G>A (p.Asp1389Asn)
NM_001130438.3(SPTAN1):c.418G>T (p.Glu140Ter) rs2130965618
NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly) rs1589309661
NM_001130438.3(SPTAN1):c.4231T>C (p.Tyr1411His) rs2131617024
NM_001130438.3(SPTAN1):c.4250A>G (p.Lys1417Arg)
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4357G>C (p.Asp1453His)
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
NM_001130438.3(SPTAN1):c.4457A>C (p.Lys1486Thr)
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs) rs1564280617
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val) rs2131621179
NM_001130438.3(SPTAN1):c.4587C>A (p.Val1529=)
NM_001130438.3(SPTAN1):c.4648T>C (p.Ser1550Pro)
NM_001130438.3(SPTAN1):c.465A>G (p.Leu155=) rs2130966272
NM_001130438.3(SPTAN1):c.4733C>A (p.Ser1578Ter) rs756887707
NM_001130438.3(SPTAN1):c.4759-7T>C
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.4938G>C (p.Gln1646His)
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.518C>G (p.Thr173Ser) rs2130975716
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5248C>T (p.Arg1750Cys)
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.528G>T (p.Glu176Asp) rs1589179214
NM_001130438.3(SPTAN1):c.5388C>G (p.Asp1796Glu)
NM_001130438.3(SPTAN1):c.5396G>A (p.Arg1799Gln)
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu) rs779973472
NM_001130438.3(SPTAN1):c.5452C>G (p.Leu1818Val) rs2131791669
NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
NM_001130438.3(SPTAN1):c.5572A>G (p.Lys1858Glu)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
NM_001130438.3(SPTAN1):c.5806A>G (p.Thr1936Ala) rs1857810076
NM_001130438.3(SPTAN1):c.5809A>G (p.Asn1937Asp) rs1554764758
NM_001130438.3(SPTAN1):c.583C>T (p.Gln195Ter) rs2130976217
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile) rs1440498629
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) rs1554766334
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter) rs2131938862
NM_001130438.3(SPTAN1):c.6082G>A (p.Ala2028Thr)
NM_001130438.3(SPTAN1):c.6135dup (p.Asp2046fs)
NM_001130438.3(SPTAN1):c.6139C>G (p.Gln2047Glu)
NM_001130438.3(SPTAN1):c.6171G>A (p.Lys2057=)
NM_001130438.3(SPTAN1):c.6266G>C (p.Ser2089Thr)
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln) rs370102482
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His) rs1301624113
NM_001130438.3(SPTAN1):c.6356_6357insC (p.Leu2119fs) rs2131965616
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
NM_001130438.3(SPTAN1):c.6479G>A (p.Arg2160His)
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6500T>C (p.Val2167Ala) rs2131968096
NM_001130438.3(SPTAN1):c.6606G>C (p.Gln2202His) rs1357160380
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp) rs1057524104
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr) rs886043546
NM_001130438.3(SPTAN1):c.6706G>A (p.Gly2236Arg)
NM_001130438.3(SPTAN1):c.6739G>A (p.Glu2247Lys) rs1859500394
NM_001130438.3(SPTAN1):c.6749T>C (p.Leu2250Pro)
NM_001130438.3(SPTAN1):c.6852CAA[1] (p.Asn2285del) rs2132088873
NM_001130438.3(SPTAN1):c.6869A>G (p.His2290Arg) rs2132089221
NM_001130438.3(SPTAN1):c.6887C>T (p.Ala2296Val) rs2132089514
NM_001130438.3(SPTAN1):c.6918C>A (p.Gly2306=)
NM_001130438.3(SPTAN1):c.6986C>T (p.Ala2329Val)
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
NM_001130438.3(SPTAN1):c.7013+7T>C rs776507647
NM_001130438.3(SPTAN1):c.7031A>G (p.Lys2344Arg)
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr) rs768911375
NM_001130438.3(SPTAN1):c.7075T>C (p.Ser2359Pro) rs2132100320
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>C (p.Glu2377Gln) rs757162652
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His) rs1280116999
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
NM_001130438.3(SPTAN1):c.7395C>A (p.Phe2465Leu) rs752878085
NM_001130438.3(SPTAN1):c.761C>A (p.Ala254Glu) rs794727784
NM_001130438.3(SPTAN1):c.862G>A (p.Ala288Thr)
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs) rs1564211389
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492

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