ClinVar Miner

List of variants in gene SEPTIN9 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) rs201560726 0.00018
NM_001113491.2(SEPTIN9):c.226C>T (p.Arg76Cys) rs202079794 0.00014
NM_001113491.2(SEPTIN9):c.299C>T (p.Ala100Val) rs753318328 0.00013
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala) rs376712636 0.00011
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986 0.00010
NM_001113491.2(SEPTIN9):c.385C>T (p.Arg129Trp) rs201442609 0.00008
NM_001113491.2(SEPTIN9):c.1708A>G (p.Ser570Gly) rs375131588 0.00005
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys) rs1294350608 0.00004
NM_001113491.2(SEPTIN9):c.1405G>A (p.Gly469Ser) rs1039884847 0.00004
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys) rs770758927 0.00004
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn) rs549141429 0.00004
NM_001113491.2(SEPTIN9):c.664A>G (p.Arg222Gly) rs767758713 0.00004
NM_001113491.2(SEPTIN9):c.974G>A (p.Arg325Gln) rs377514245 0.00004
NM_001113491.2(SEPTIN9):c.1204C>T (p.Arg402Cys) rs199903530 0.00003
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) rs753322947 0.00003
NM_001113491.2(SEPTIN9):c.443G>A (p.Arg148Gln) rs755551840 0.00003
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247 0.00003
NM_001113491.2(SEPTIN9):c.1211C>T (p.Pro404Leu) rs777636409 0.00002
NM_001113491.2(SEPTIN9):c.272G>A (p.Arg91Gln) rs764983438 0.00002
NM_001113491.2(SEPTIN9):c.344C>T (p.Ser115Leu) rs768122375 0.00002
NM_001113491.2(SEPTIN9):c.425C>T (p.Thr142Met) rs367650017 0.00002
NM_001113491.2(SEPTIN9):c.722-3C>T rs767173662 0.00002
NM_001113491.2(SEPTIN9):c.760G>A (p.Asp254Asn) rs777546447 0.00002
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) rs762063100 0.00002
NM_001113491.2(SEPTIN9):c.973C>T (p.Arg325Trp) rs373846647 0.00002
NM_006640.5(SEPTIN9):c.7A>G (p.Arg3Gly) rs1401399672 0.00002
NM_001113491.2(SEPTIN9):c.1028A>T (p.Lys343Met) rs1039716027 0.00001
NM_001113491.2(SEPTIN9):c.109G>A (p.Glu37Lys) rs752352921 0.00001
NM_001113491.2(SEPTIN9):c.1151A>G (p.Asn384Ser) rs557624656 0.00001
NM_001113491.2(SEPTIN9):c.1186A>G (p.Asn396Asp) rs939608289 0.00001
NM_001113491.2(SEPTIN9):c.1262+4C>T rs374466859 0.00001
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser) rs749673813 0.00001
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) rs781163314 0.00001
NM_001113491.2(SEPTIN9):c.1531A>C (p.Lys511Gln) rs768075619 0.00001
NM_001113491.2(SEPTIN9):c.1733A>G (p.Glu578Gly) rs1449326904 0.00001
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=) rs760234906 0.00001
NM_001113491.2(SEPTIN9):c.223G>T (p.Ala75Ser) rs752068732 0.00001
NM_001113491.2(SEPTIN9):c.367G>A (p.Gly123Arg) rs1193204367 0.00001
NM_001113491.2(SEPTIN9):c.380C>T (p.Pro127Leu) rs758106177 0.00001
NM_001113491.2(SEPTIN9):c.403G>A (p.Ala135Thr) rs775951302 0.00001
NM_001113491.2(SEPTIN9):c.544G>A (p.Asp182Asn) rs748481903 0.00001
NM_001113491.2(SEPTIN9):c.577C>T (p.Pro193Ser) rs1021500613 0.00001
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val) rs200850474 0.00001
NM_001113491.2(SEPTIN9):c.803G>A (p.Arg268Gln) rs536707494 0.00001
NM_001113491.2(SEPTIN9):c.980C>T (p.Ser327Leu) rs763816708 0.00001
NC_000017.10:g.(?_75316409)_(75316450_?)dup
NC_000017.10:g.(?_75316409)_(75398805_?)dup
NC_000017.10:g.(?_75398121)_(75398805_?)dup
NC_000017.10:g.(?_75398457)_(75398803_?)dup
NC_000017.10:g.(?_75478206)_(75494740_?)dup
NC_000017.10:g.(?_75488683)_(75494740_?)dup
NM_001113491.2(SEPTIN9):c.1003C>T (p.Arg335Cys)
NM_001113491.2(SEPTIN9):c.1019T>A (p.Ile340Asn) rs1191234463
NM_001113491.2(SEPTIN9):c.1021G>A (p.Glu341Lys) rs368073599
NM_001113491.2(SEPTIN9):c.1037C>A (p.Thr346Lys)
NM_001113491.2(SEPTIN9):c.1048GAG[1] (p.Glu351del)
NM_001113491.2(SEPTIN9):c.1060G>A (p.Val354Ile)
NM_001113491.2(SEPTIN9):c.106G>A (p.Val36Ile)
NM_001113491.2(SEPTIN9):c.1081A>G (p.Ile361Val) rs1555679524
NM_001113491.2(SEPTIN9):c.1088C>T (p.Thr363Ile) rs2143350362
NM_001113491.2(SEPTIN9):c.1097T>C (p.Phe366Ser)
NM_001113491.2(SEPTIN9):c.109G>T (p.Glu37Ter)
NM_001113491.2(SEPTIN9):c.1117G>A (p.Glu373Lys)
NM_001113491.2(SEPTIN9):c.1117G>C (p.Glu373Gln)
NM_001113491.2(SEPTIN9):c.1135A>G (p.Ile379Val)
NM_001113491.2(SEPTIN9):c.1153G>A (p.Asp385Asn)
NM_001113491.2(SEPTIN9):c.1168T>C (p.Tyr390His)
NM_001113491.2(SEPTIN9):c.1183G>A (p.Val395Ile)
NM_001113491.2(SEPTIN9):c.1187A>C (p.Asn396Thr) rs763187057
NM_001113491.2(SEPTIN9):c.1187A>G (p.Asn396Ser)
NM_001113491.2(SEPTIN9):c.1195C>T (p.Arg399Cys)
NM_001113491.2(SEPTIN9):c.1196G>A (p.Arg399His)
NM_001113491.2(SEPTIN9):c.1205G>A (p.Arg402His)
NM_001113491.2(SEPTIN9):c.1222G>A (p.Val408Ile)
NM_001113491.2(SEPTIN9):c.127C>T (p.Pro43Ser)
NM_001113491.2(SEPTIN9):c.128C>A (p.Pro43Gln)
NM_001113491.2(SEPTIN9):c.128C>G (p.Pro43Arg) rs780472921
NM_001113491.2(SEPTIN9):c.1294C>T (p.Arg432Cys)
NM_001113491.2(SEPTIN9):c.1318G>A (p.Val440Ile)
NM_001113491.2(SEPTIN9):c.1337C>T (p.Ala446Val) rs760752419
NM_001113491.2(SEPTIN9):c.133C>T (p.Arg45Trp)
NM_001113491.2(SEPTIN9):c.1343C>T (p.Thr448Ile)
NM_001113491.2(SEPTIN9):c.1366C>T (p.His456Tyr)
NM_001113491.2(SEPTIN9):c.1375C>G (p.Gln459Glu)
NM_001113491.2(SEPTIN9):c.1379G>A (p.Arg460Gln)
NM_001113491.2(SEPTIN9):c.1380+4G>T
NM_001113491.2(SEPTIN9):c.1380+5G>C
NM_001113491.2(SEPTIN9):c.1380+5G>T rs762976032
NM_001113491.2(SEPTIN9):c.1380+6G>A
NM_001113491.2(SEPTIN9):c.1387G>A (p.Ala463Thr)
NM_001113491.2(SEPTIN9):c.139G>T (p.Val47Phe) rs2144098160
NM_001113491.2(SEPTIN9):c.1400C>G (p.Ser467Cys)
NM_001113491.2(SEPTIN9):c.1403A>G (p.Asn468Ser)
NM_001113491.2(SEPTIN9):c.1406G>A (p.Gly469Asp)
NM_001113491.2(SEPTIN9):c.1406G>T (p.Gly469Val)
NM_001113491.2(SEPTIN9):c.1407C>T (p.Gly469=) rs1598471809
NM_001113491.2(SEPTIN9):c.1408_1413del (p.Ile470_Asp471del)
NM_001113491.2(SEPTIN9):c.1415T>C (p.Val472Ala)
NM_001113491.2(SEPTIN9):c.1445C>T (p.Ser482Leu)
NM_001113491.2(SEPTIN9):c.1453C>T (p.Arg485Trp)
NM_001113491.2(SEPTIN9):c.1454G>A (p.Arg485Gln)
NM_001113491.2(SEPTIN9):c.1467G>C (p.Glu489Asp)
NM_001113491.2(SEPTIN9):c.1469A>T (p.Lys490Met)
NM_001113491.2(SEPTIN9):c.1476G>A (p.Arg492=)
NM_001113491.2(SEPTIN9):c.1484T>C (p.Ile495Thr)
NM_001113491.2(SEPTIN9):c.1508A>C (p.Asp503Ala)
NM_001113491.2(SEPTIN9):c.1512C>G (p.His504Gln)
NM_001113491.2(SEPTIN9):c.1522G>A (p.Val508Ile)
NM_001113491.2(SEPTIN9):c.1527C>G (p.Asn509Lys)
NM_001113491.2(SEPTIN9):c.1528G>A (p.Gly510Ser)
NM_001113491.2(SEPTIN9):c.1535G>A (p.Arg512Lys)
NM_001113491.2(SEPTIN9):c.1573+6C>T
NM_001113491.2(SEPTIN9):c.1582A>G (p.Thr528Ala)
NM_001113491.2(SEPTIN9):c.1585A>G (p.Thr529Ala)
NM_001113491.2(SEPTIN9):c.1589_1592del (p.His530fs)
NM_001113491.2(SEPTIN9):c.1600G>A (p.Ala534Thr)
NM_001113491.2(SEPTIN9):c.1610G>A (p.Arg537Gln)
NM_001113491.2(SEPTIN9):c.1626-18C>A
NM_001113491.2(SEPTIN9):c.1651A>G (p.Ile551Val)
NM_001113491.2(SEPTIN9):c.166G>A (p.Val56Met)
NM_001113491.2(SEPTIN9):c.1672G>A (p.Glu558Lys)
NM_001113491.2(SEPTIN9):c.1691G>A (p.Arg564His)
NM_001113491.2(SEPTIN9):c.1701G>C (p.Glu567Asp)
NM_001113491.2(SEPTIN9):c.1703G>A (p.Gly568Asp)
NM_001113491.2(SEPTIN9):c.1711G>A (p.Ala571Thr)
NM_001113491.2(SEPTIN9):c.1711G>T (p.Ala571Ser)
NM_001113491.2(SEPTIN9):c.1721A>G (p.Asn574Ser)
NM_001113491.2(SEPTIN9):c.1722C>A (p.Asn574Lys)
NM_001113491.2(SEPTIN9):c.1726_1727delinsGC (p.Met576Ala) rs2143490586
NM_001113491.2(SEPTIN9):c.1726_1728del (p.Met576del)
NM_001113491.2(SEPTIN9):c.1730A>T (p.Glu577Val)
NM_001113491.2(SEPTIN9):c.1735A>G (p.Lys579Glu)
NM_001113491.2(SEPTIN9):c.1747G>A (p.Ala583Thr)
NM_001113491.2(SEPTIN9):c.1750C>G (p.Pro584Ala)
NM_001113491.2(SEPTIN9):c.1751C>G (p.Pro584Arg)
NM_001113491.2(SEPTIN9):c.175T>C (p.Ser59Pro) rs1034935011
NM_001113491.2(SEPTIN9):c.175_177del (p.Ser59del) rs1471088684
NM_001113491.2(SEPTIN9):c.192G>C (p.Gln64His)
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met) rs11537706
NM_001113491.2(SEPTIN9):c.206A>G (p.Lys69Arg)
NM_001113491.2(SEPTIN9):c.212C>T (p.Ser71Leu) rs2144098479
NM_001113491.2(SEPTIN9):c.220T>C (p.Ser74Pro) rs2144098553
NM_001113491.2(SEPTIN9):c.221C>G (p.Ser74Trp)
NM_001113491.2(SEPTIN9):c.227G>A (p.Arg76His)
NM_001113491.2(SEPTIN9):c.236A>G (p.Asp79Gly)
NM_001113491.2(SEPTIN9):c.246C>A (p.Ser82Arg) rs2144098737
NM_001113491.2(SEPTIN9):c.248_256del (p.Gln83_Ser85del)
NM_001113491.2(SEPTIN9):c.250C>A (p.Arg84Ser)
NM_001113491.2(SEPTIN9):c.250C>T (p.Arg84Cys)
NM_001113491.2(SEPTIN9):c.263C>T (p.Ala88Val)
NM_001113491.2(SEPTIN9):c.266C>T (p.Ser89Phe)
NM_001113491.2(SEPTIN9):c.271C>T (p.Arg91Trp)
NM_001113491.2(SEPTIN9):c.287C>T (p.Ser96Leu)
NM_001113491.2(SEPTIN9):c.290G>T (p.Gly97Val)
NM_001113491.2(SEPTIN9):c.304G>A (p.Glu102Lys)
NM_001113491.2(SEPTIN9):c.305A>G (p.Glu102Gly) rs2144099079
NM_001113491.2(SEPTIN9):c.308C>T (p.Pro103Leu)
NM_001113491.2(SEPTIN9):c.319C>T (p.Arg107Cys)
NM_001113491.2(SEPTIN9):c.320G>A (p.Arg107His)
NM_001113491.2(SEPTIN9):c.329T>C (p.Leu110Pro)
NM_001113491.2(SEPTIN9):c.334A>G (p.Ile112Val)
NM_001113491.2(SEPTIN9):c.340A>T (p.Ile114Phe)
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001113491.2(SEPTIN9):c.354G>T (p.Gln118His)
NM_001113491.2(SEPTIN9):c.355G>A (p.Val119Met)
NM_001113491.2(SEPTIN9):c.360G>C (p.Glu120Asp)
NM_001113491.2(SEPTIN9):c.364G>A (p.Ala122Thr) rs776112941
NM_001113491.2(SEPTIN9):c.364G>T (p.Ala122Ser)
NM_001113491.2(SEPTIN9):c.365C>T (p.Ala122Val)
NM_001113491.2(SEPTIN9):c.368G>A (p.Gly123Glu)
NM_001113491.2(SEPTIN9):c.376G>A (p.Gly126Ser)
NM_001113491.2(SEPTIN9):c.377G>A (p.Gly126Asp)
NM_001113491.2(SEPTIN9):c.386G>A (p.Arg129Gln) rs754858859
NM_001113491.2(SEPTIN9):c.415G>A (p.Gly139Ser)
NM_001113491.2(SEPTIN9):c.422A>G (p.Lys141Arg)
NM_001113491.2(SEPTIN9):c.440C>G (p.Pro147Arg) rs1307150824
NM_001113491.2(SEPTIN9):c.449C>T (p.Thr150Met)
NM_001113491.2(SEPTIN9):c.463G>A (p.Val155Ile)
NM_001113491.2(SEPTIN9):c.469C>T (p.Pro157Ser)
NM_001113491.2(SEPTIN9):c.473A>G (p.Gln158Arg)
NM_001113491.2(SEPTIN9):c.478T>C (p.Ser160Pro) rs946188571
NM_001113491.2(SEPTIN9):c.482C>T (p.Ala161Val)
NM_001113491.2(SEPTIN9):c.488G>A (p.Arg163Gln)
NM_001113491.2(SEPTIN9):c.493A>G (p.Met165Val) rs2144100082
NM_001113491.2(SEPTIN9):c.512A>G (p.Lys171Arg)
NM_001113491.2(SEPTIN9):c.533C>A (p.Ala178Asp)
NM_001113491.2(SEPTIN9):c.545A>G (p.Asp182Gly)
NM_001113491.2(SEPTIN9):c.547G>A (p.Ala183Thr)
NM_001113491.2(SEPTIN9):c.548C>T (p.Ala183Val)
NM_001113491.2(SEPTIN9):c.554C>G (p.Pro185Arg) rs1205387762
NM_001113491.2(SEPTIN9):c.557A>G (p.Lys186Arg) rs1212564510
NM_001113491.2(SEPTIN9):c.560G>A (p.Arg187Lys)
NM_001113491.2(SEPTIN9):c.562G>T (p.Val188Leu)
NM_001113491.2(SEPTIN9):c.570C>G (p.Ile190Met)
NM_001113491.2(SEPTIN9):c.583C>G (p.Pro195Ala)
NM_001113491.2(SEPTIN9):c.601G>A (p.Ala201Thr)
NM_001113491.2(SEPTIN9):c.619A>T (p.Thr207Ser)
NM_001113491.2(SEPTIN9):c.651_652del (p.Gln218fs) rs2144101174
NM_001113491.2(SEPTIN9):c.672G>C (p.Glu224Asp)
NM_001113491.2(SEPTIN9):c.673C>G (p.Pro225Ala)
NM_001113491.2(SEPTIN9):c.686C>A (p.Pro229His)
NM_001113491.2(SEPTIN9):c.688C>G (p.Pro230Ala)
NM_001113491.2(SEPTIN9):c.703A>G (p.Thr235Ala)
NM_001113491.2(SEPTIN9):c.707C>G (p.Pro236Arg)
NM_001113491.2(SEPTIN9):c.709C>T (p.Arg237Trp)
NM_001113491.2(SEPTIN9):c.722C>G (p.Ala241Gly)
NM_001113491.2(SEPTIN9):c.731C>T (p.Ala244Val)
NM_001113491.2(SEPTIN9):c.733G>A (p.Ala245Thr)
NM_001113491.2(SEPTIN9):c.734C>A (p.Ala245Asp)
NM_001113491.2(SEPTIN9):c.736C>T (p.Pro246Ser)
NM_001113491.2(SEPTIN9):c.745G>A (p.Val249Ile)
NM_001113491.2(SEPTIN9):c.748G>A (p.Gly250Ser)
NM_001113491.2(SEPTIN9):c.749G>A (p.Gly250Asp)
NM_001113491.2(SEPTIN9):c.751G>A (p.Asp251Asn)
NM_001113491.2(SEPTIN9):c.757G>C (p.Ala253Pro)
NM_001113491.2(SEPTIN9):c.76+13155C>G
NM_001113491.2(SEPTIN9):c.76+13156_76+13157delinsCG
NM_001113491.2(SEPTIN9):c.767C>G (p.Pro256Arg)
NM_001113491.2(SEPTIN9):c.775G>A (p.Ala259Thr)
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val) rs745391514
NM_001113491.2(SEPTIN9):c.796G>A (p.Ala266Thr)
NM_001113491.2(SEPTIN9):c.818C>T (p.Pro273Leu)
NM_001113491.2(SEPTIN9):c.826T>A (p.Phe276Ile)
NM_001113491.2(SEPTIN9):c.869G>A (p.Arg290Gln)
NM_001113491.2(SEPTIN9):c.869G>T (p.Arg290Leu) rs557154026
NM_001113491.2(SEPTIN9):c.871A>G (p.Lys291Glu)
NM_001113491.2(SEPTIN9):c.887G>T (p.Gly296Val)
NM_001113491.2(SEPTIN9):c.892G>C (p.Glu298Gln)
NM_001113491.2(SEPTIN9):c.897C>G (p.Phe299Leu)
NM_001113491.2(SEPTIN9):c.912C>G (p.Val304=)
NM_001113491.2(SEPTIN9):c.91T>C (p.Phe31Leu)
NM_001113491.2(SEPTIN9):c.940T>A (p.Leu314Ile)
NM_001113491.2(SEPTIN9):c.960A>G (p.Lys320=)
NM_001113491.2(SEPTIN9):c.962C>G (p.Ser321Cys)
NM_001113491.2(SEPTIN9):c.97G>A (p.Val33Ile)
NM_001113491.2(SEPTIN9):c.985C>A (p.Gln329Lys)
NM_001113491.2(SEPTIN9):c.986A>G (p.Gln329Arg)
NM_001113491.2(SEPTIN9):c.98T>C (p.Val33Ala)
NM_001113491.2(SEPTIN9):c.997G>A (p.Glu333Lys) rs1290285658
NM_006640.5(SEPTIN9):c.13C>G (p.Arg5Gly)
NM_006640.5(SEPTIN9):c.14G>A (p.Arg5Gln)
NM_006640.5(SEPTIN9):c.2T>A (p.Met1Lys)
NM_006640.5(SEPTIN9):c.4G>T (p.Glu2Ter)

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