ClinVar Miner

List of variants in gene SEPTIN9 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.1626-336T>C rs375884 0.94075
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_001113491.2(SEPTIN9):c.76+12020T>C rs9889391 0.88925
NM_001113491.2(SEPTIN9):c.76+19T>C rs4789439 0.87796
NM_001113491.2(SEPTIN9):c.913+64C>T rs425139 0.61498
NM_001113491.2(SEPTIN9):c.1125-109A>G rs378578 0.57353
NM_001113491.2(SEPTIN9):c.1125-28T>C rs370531 0.55801
NM_001113491.2(SEPTIN9):c.1043-166C>T rs441670 0.55168
NM_001113491.2(SEPTIN9):c.1262+68A>C rs426885 0.54650
NM_001113491.2(SEPTIN9):c.1043-249T>C rs364739 0.54610
NM_001113491.2(SEPTIN9):c.*325T>C rs448203 0.53926
NM_001113491.2(SEPTIN9):c.1380+261G>C rs385419 0.53891
NM_001113491.2(SEPTIN9):c.1573+86A>G rs167498 0.50920
NM_001113491.2(SEPTIN9):c.*40A>T rs11537705 0.50323
NM_001113491.2(SEPTIN9):c.1477-89C>T rs2627198 0.50267
NM_001113491.2(SEPTIN9):c.1573+58C>T rs312797 0.50256
NM_001113491.2(SEPTIN9):c.1573+125dup rs61127839 0.49788
NM_001113491.2(SEPTIN9):c.913+277T>C rs416438 0.45396
NM_001113491.2(SEPTIN9):c.*6A>G rs1059485 0.45123
NM_001113491.2(SEPTIN9):c.77-28563T>C rs7217986 0.39944
NM_001113491.2(SEPTIN9):c.1625+237A>G rs4789455 0.35553
NM_001113491.2(SEPTIN9):c.1263-143C>T rs387688 0.32667
NM_001113491.2(SEPTIN9):c.76+13218C>T rs3760143 0.27741
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.07939
NM_001113491.2(SEPTIN9):c.722-6979G>A rs41282083 0.07298
NM_001113491.2(SEPTIN9):c.20-121G>A rs73997467 0.06749
NM_001113491.2(SEPTIN9):c.722-6464G>A rs312821 0.06587
NM_001113491.2(SEPTIN9):c.1263-135G>T rs115933759 0.03790
NM_001113491.2(SEPTIN9):c.76+12812C>T rs75147264 0.03538
NM_001113491.2(SEPTIN9):c.1262+183C>T rs200612428 0.03371
NM_001113491.2(SEPTIN9):c.722-7197G>A rs72887175 0.03107
NM_001113491.2(SEPTIN9):c.*283C>T rs9897357 0.02822
NM_001113491.2(SEPTIN9):c.1381-158G>A rs80304557 0.02776
NM_001113491.2(SEPTIN9):c.914-45G>A rs440024 0.02716
NM_001113491.2(SEPTIN9):c.722-6993G>A rs2898648 0.02686
NM_001113491.2(SEPTIN9):c.1125-53G>A rs115246185 0.02580
NM_001113491.2(SEPTIN9):c.1042+10C>T rs114550498 0.02534
NM_001113491.2(SEPTIN9):c.1124+132A>G rs115820259 0.02375
NM_001113491.2(SEPTIN9):c.722-6937G>T rs41282085 0.02357
NM_001113491.2(SEPTIN9):c.1263-183C>T rs114092762 0.02255
NM_001113491.2(SEPTIN9):c.1380+236A>G rs57517860 0.02122
NM_001113491.2(SEPTIN9):c.1626-226G>A rs116776768 0.01624
NM_001113491.2(SEPTIN9):c.1125-27G>A rs114488032 0.01594
NM_001113491.2(SEPTIN9):c.721+51T>C rs3744065 0.01353
NM_001113491.2(SEPTIN9):c.77-28440C>T rs185570223 0.01307
NM_001113491.2(SEPTIN9):c.76+13176C>T rs138930673 0.01177
NM_001113491.2(SEPTIN9):c.1125-5C>T rs73377525 0.01124
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01116
NM_001113491.2(SEPTIN9):c.76+12309G>A rs11871408 0.01110
NM_001113491.2(SEPTIN9):c.76+13049A>G rs140915871 0.00960
NM_001113491.2(SEPTIN9):c.1262+19G>A rs149789591 0.00949
NM_001113491.2(SEPTIN9):c.1043-4G>A rs147213134 0.00900
NM_001113491.2(SEPTIN9):c.1125-17C>A rs147811883 0.00896
NM_001113491.2(SEPTIN9):c.*260C>T rs28364840 0.00872
NM_001113491.2(SEPTIN9):c.77-29191C>T rs4789450 0.00841
NM_001113491.2(SEPTIN9):c.77-28458C>G rs377135446 0.00646
NM_001113491.2(SEPTIN9):c.1381-209G>A rs114859512 0.00569
NM_001113491.2(SEPTIN9):c.1125-136C>T rs112522374 0.00549
NM_001113491.2(SEPTIN9):c.1042+228G>T rs149258467 0.00548
NM_001113491.2(SEPTIN9):c.77-28592C>T rs193055905 0.00533
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00531
NM_001113491.2(SEPTIN9):c.1626-98C>T rs555660785 0.00525
NM_001113491.2(SEPTIN9):c.1380+259G>A rs574542210 0.00468
NM_001113491.2(SEPTIN9):c.1042+34_1042+39del rs1434889586 0.00447
NM_001113491.2(SEPTIN9):c.76+236G>C rs115382822 0.00441
NM_001113491.2(SEPTIN9):c.76+12133T>C rs563109617 0.00423
NM_001113491.2(SEPTIN9):c.77-287T>C rs8064457 0.00415
NM_001113491.2(SEPTIN9):c.1263-309G>A rs137996667 0.00409
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00407
NM_001113491.2(SEPTIN9):c.77-29C>T rs8082532 0.00401
NM_001113491.2(SEPTIN9):c.20-279G>T rs142910755 0.00329
NM_001113491.2(SEPTIN9):c.1042+42C>A rs145874273 0.00279
NM_001113491.2(SEPTIN9):c.*24A>T rs377037496 0.00247
NM_001113491.2(SEPTIN9):c.1573+21G>A rs148005121 0.00244
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) rs202186741 0.00232
NM_001113491.2(SEPTIN9):c.722-6217G>A rs189472517 0.00224
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00161
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 0.00135
NM_001113491.2(SEPTIN9):c.76+13171C>T rs368295986 0.00101
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) rs189537244 0.00099
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00098
NM_001113491.2(SEPTIN9):c.77-28584C>T rs761602845 0.00085
NM_001113491.2(SEPTIN9):c.913+53C>G rs376593616 0.00072
NM_001113491.2(SEPTIN9):c.1626-41T>C rs781046153 0.00070
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001113491.2(SEPTIN9):c.*207G>A rs560243481 0.00062
NM_001113491.2(SEPTIN9):c.76+12306G>A rs116050287 0.00054
NM_001113491.2(SEPTIN9):c.593C>T (p.Ala198Val) rs201468152 0.00048
NM_001113491.2(SEPTIN9):c.1124+49C>G rs574915189 0.00037
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) rs199557573 0.00029
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) rs370602650 0.00029
NM_001113491.2(SEPTIN9):c.*213C>T rs891469973 0.00022
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) rs375450011 0.00019
NM_001113491.2(SEPTIN9):c.722-6567G>T rs372794745 0.00019
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) rs187657144 0.00019
NM_001113491.2(SEPTIN9):c.1476+30A>G rs532451364 0.00015
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala) rs376712636 0.00010
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) rs774560543 0.00007
NM_001113491.2(SEPTIN9):c.544G>A (p.Asp182Asn) rs748481903 0.00003
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser) rs749673813 0.00002
NM_001113491.2(SEPTIN9):c.1003C>T (p.Arg335Cys) rs866329694 0.00001
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) rs781163314 0.00001
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val) rs200850474 0.00001
GRCh37/hg19 17q25.3(chr17:75468978-75556850)x3
NM_001113491.2(SEPTIN9):c.*55dup rs5822173
NM_001113491.2(SEPTIN9):c.1042+42_1042+50del rs1568115905
NM_001113491.2(SEPTIN9):c.1043-119del rs35261301
NM_001113491.2(SEPTIN9):c.1081A>G (p.Ile361Val) rs1555679524
NM_001113491.2(SEPTIN9):c.1262+144G>A rs76907498
NM_001113491.2(SEPTIN9):c.1262+192del rs3214721
NM_001113491.2(SEPTIN9):c.1477-47T>C rs188747
NM_001113491.2(SEPTIN9):c.1574-233_1574-212dup rs575282339
NM_001113491.2(SEPTIN9):c.1626-17G>C rs769186249
NM_001113491.2(SEPTIN9):c.1626-21G>C rs748889879
NM_001113491.2(SEPTIN9):c.1626-43G>C rs754935090
NM_001113491.2(SEPTIN9):c.1626-48A>C rs766223467
NM_001113491.2(SEPTIN9):c.1672G>A (p.Glu558Lys) rs1318419081
NM_001113491.2(SEPTIN9):c.1724G>A (p.Gly575Asp) rs988554004
NM_001113491.2(SEPTIN9):c.1751C>G (p.Pro584Arg) rs753322947
NM_001113491.2(SEPTIN9):c.248_256del (p.Gln83_Ser85del)
NM_001113491.2(SEPTIN9):c.305A>G (p.Glu102Gly) rs2144099079
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001113491.2(SEPTIN9):c.377G>A (p.Gly126Asp) rs765373402
NM_001113491.2(SEPTIN9):c.386G>A (p.Arg129Gln) rs754858859
NM_001113491.2(SEPTIN9):c.502C>G (p.Pro168Ala)
NM_001113491.2(SEPTIN9):c.562G>T (p.Val188Leu) rs1010086399
NM_001113491.2(SEPTIN9):c.563_564del (p.Val188fs) rs1555659996
NM_001113491.2(SEPTIN9):c.651_652del (p.Gln218fs) rs2144101174
NM_001113491.2(SEPTIN9):c.76+12208G>C rs142598684
NM_001113491.2(SEPTIN9):c.76+223G>A rs72880527
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val) rs745391514
NM_001113491.2(SEPTIN9):c.871A>G (p.Lys291Glu) rs2510084472
NM_001113491.2(SEPTIN9):c.913+254G>A rs147483677

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