ClinVar Miner

List of variants in gene SEPTIN9 reported as benign for hereditary peripheral neuropathy

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_001113491.2(SEPTIN9):c.*1720T>C rs445507 0.54935
NM_001113491.2(SEPTIN9):c.*325T>C rs448203 0.53926
NM_001113491.2(SEPTIN9):c.*40A>T rs11537705 0.50158
NM_001113491.2(SEPTIN9):c.*657T>C rs9038 0.47153
NM_001113491.2(SEPTIN9):c.*6A>G rs1059485 0.45123
NM_001113491.2(SEPTIN9):c.77-28563T>C rs7217986 0.40683
NM_001113491.2(SEPTIN9):c.721+2405G>A rs2164449 0.40401
NM_001113491.2(SEPTIN9):c.*1035G>A rs368116 0.09627
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.08095
NM_001113491.2(SEPTIN9):c.*764C>G rs422959 0.07882
NM_001113491.2(SEPTIN9):c.*740C>T rs442959 0.06084
NM_001113491.2(SEPTIN9):c.76+12812C>T rs75147264 0.03538
NM_001113491.2(SEPTIN9):c.*377T>G rs9904206 0.03447
NM_001113491.2(SEPTIN9):c.*283C>T rs9897357 0.02822
NM_001113491.2(SEPTIN9):c.*955C>T rs116655270 0.02567
NM_001113491.2(SEPTIN9):c.1042+10C>T rs114550498 0.02534
NM_001113491.2(SEPTIN9):c.*939A>G rs74779723 0.01764
NM_001113491.2(SEPTIN9):c.*1233C>T rs77195002 0.01495
NM_001113491.2(SEPTIN9):c.*783A>G rs76051887 0.01291
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01048
NM_001113491.2(SEPTIN9):c.1125-5C>T rs73377525 0.01030
NM_001113491.2(SEPTIN9):c.76+13049A>G rs140915871 0.01020
NM_001113491.2(SEPTIN9):c.1043-4G>A rs147213134 0.00950
NM_001113491.2(SEPTIN9):c.*260C>T rs28364840 0.00872
NM_001113491.2(SEPTIN9):c.*373G>A rs139898898 0.00838
NM_001113491.2(SEPTIN9):c.76+12730G>T rs138208028 0.00526
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001113491.2(SEPTIN9):c.*1900A>G rs180847518 0.00357
NM_001113491.2(SEPTIN9):c.*709C>T rs146084702 0.00342
NM_001113491.2(SEPTIN9):c.*789G>A rs12969 0.00247
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) rs202186741 0.00232
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001113491.2(SEPTIN9):c.*454G>A rs573267105 0.00179
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_001113491.2(SEPTIN9):c.1477-9G>A rs145143440 0.00156
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 0.00135
NM_001113491.2(SEPTIN9):c.*876C>T rs3826284 0.00126
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) rs189537244 0.00108
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001113491.2(SEPTIN9):c.*578G>T rs546283819 0.00035
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) rs78745349 0.00034
NM_001113491.2(SEPTIN9):c.*207G>A rs560243481 0.00033
NM_001113491.2(SEPTIN9):c.*1896A>G rs189204974 0.00032
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) rs367749123 0.00030
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) rs199557573 0.00029
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys) rs201409034 0.00029
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) rs370602650 0.00029
NM_001113491.2(SEPTIN9):c.1125-10C>T rs199872443 0.00028
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) rs80015943 0.00027
NM_001113491.2(SEPTIN9):c.76+12362T>G rs370236963 0.00026
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) rs375450011 0.00021
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) rs187657144 0.00019
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) rs201560726 0.00018
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) rs201471541 0.00016
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) rs546188962 0.00016
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) rs200363929 0.00011
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986 0.00010
NM_001113491.2(SEPTIN9):c.*718C>G rs370900865 0.00007
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) rs774560543 0.00007
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) rs559745979 0.00005
NM_001113491.2(SEPTIN9):c.*628G>A rs773994627 0.00002
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp) rs544797046 0.00002
NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=) rs377093783 0.00001
NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=) rs373520148 0.00001
NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala) rs746996757 0.00001
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) rs775300302 0.00001
NM_001113491.2(SEPTIN9):c.76+12824C>T rs530024170 0.00001
NM_001113491.2(SEPTIN9):c.*15A>C rs759620828
NM_001113491.2(SEPTIN9):c.*20C>A rs373598188
NM_001113491.2(SEPTIN9):c.*2C>T rs371665779
NM_001113491.2(SEPTIN9):c.*55dup rs5822173
NM_001113491.2(SEPTIN9):c.*573C>G rs527593353
NM_001113491.2(SEPTIN9):c.*647G>A rs188932761

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