ClinVar Miner

List of variants in gene SEPTIN9 reported as uncertain significance for brachial plexus neuropathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.*1639C>G rs539303139 0.00155
NM_001113491.2(SEPTIN9):c.*417C>T rs758432689 0.00086
NM_001113491.2(SEPTIN9):c.*1204A>G rs568078300 0.00082
NM_001113491.2(SEPTIN9):c.76+12407G>A rs765972765 0.00068
NM_001113491.2(SEPTIN9):c.76+12764G>A rs769442066 0.00053
NM_001113491.2(SEPTIN9):c.*1847G>A rs535971752 0.00049
NM_001113491.2(SEPTIN9):c.*903C>T rs886053495 0.00038
NM_001113491.2(SEPTIN9):c.76+12350G>C rs534426016 0.00028
NM_001113491.2(SEPTIN9):c.*372C>T rs773235757 0.00026
NM_001113491.2(SEPTIN9):c.*1253T>G rs748692946 0.00022
NM_001113491.2(SEPTIN9):c.*45C>T rs756589796 0.00018
NM_001113491.2(SEPTIN9):c.*1292G>A rs747361957 0.00014
NM_001113491.2(SEPTIN9):c.76+12321C>G rs989073256 0.00011
NM_001113491.2(SEPTIN9):c.*1724G>A rs886053498 0.00006
NM_001113491.2(SEPTIN9):c.*959G>A rs911601031 0.00006
NM_001113491.2(SEPTIN9):c.76+12716G>A rs1376331809 0.00006
NM_001113491.2(SEPTIN9):c.76+12954C>T rs563964076 0.00005
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys) rs1294350608 0.00004
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys) rs770758927 0.00004
NM_001113491.2(SEPTIN9):c.*1832A>G rs1347522638 0.00003
NM_001113491.2(SEPTIN9):c.*759A>G rs886053493 0.00003
NM_001113491.2(SEPTIN9):c.*989T>A rs879645823 0.00003
NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln) rs886053485 0.00003
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=) rs763954299 0.00002
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) rs762063100 0.00002
NM_001113491.2(SEPTIN9):c.*1548C>T rs1245509279 0.00001
NM_001113491.2(SEPTIN9):c.*1675C>T rs574185722 0.00001
NM_001113491.2(SEPTIN9):c.*586A>G rs886053492 0.00001
NM_001113491.2(SEPTIN9):c.*904G>A rs1568129606 0.00001
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=) rs772005682 0.00001
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) rs781163314 0.00001
NM_001113491.2(SEPTIN9):c.*1012G>T rs897554465
NM_001113491.2(SEPTIN9):c.*1124C>T rs2040429452
NM_001113491.2(SEPTIN9):c.*1314C>A rs1315561699
NM_001113491.2(SEPTIN9):c.*1463G>T rs557737230
NM_001113491.2(SEPTIN9):c.*56A>C rs1207223792
NM_001113491.2(SEPTIN9):c.*647G>C rs188932761
NM_001113491.2(SEPTIN9):c.*732G>C rs773550651
NM_001113491.2(SEPTIN9):c.*867G>A rs886053494
NM_001113491.2(SEPTIN9):c.*911C>T rs992905068
NM_001113491.2(SEPTIN9):c.1124+8C>T rs775763949
NM_001113491.2(SEPTIN9):c.1166A>G (p.Lys389Arg)
NM_001113491.2(SEPTIN9):c.1381-4C>G
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met) rs11537706
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001113491.2(SEPTIN9):c.362A>G (p.Asn121Ser)
NM_001113491.2(SEPTIN9):c.76+12793G>A rs367749793

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