ClinVar Miner

List of variants studied for axonal neuropathy by Inherited Neuropathy Consortium

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.1634G>A (p.Arg545His) rs746486469 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022041.4(GAN):c.1102G>A (p.Gly368Arg) rs758756818 0.00001
NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr) rs777535272 0.00001
NM_022041.4(GAN):c.1505G>A (p.Trp502Ter) rs1597414001 0.00001
NM_022041.4(GAN):c.236C>T (p.Ser79Leu) rs1310137430 0.00001
NM_022041.4(GAN):c.545T>A (p.Ile182Asn) rs1258332075 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NM_022041.4(GAN):c.896A>G (p.Tyr299Cys) rs1254823893 0.00001
NM_022041.4(GAN):c.971C>T (p.Ala324Val) rs778244338 0.00001
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1086+1G>C rs1597405785
NM_022041.4(GAN):c.1179T>A (p.Cys393Ter) rs1597406427
NM_022041.4(GAN):c.1203G>A (p.Trp401Ter) rs1349484624
NM_022041.4(GAN):c.1237-1G>A rs1597407007
NM_022041.4(GAN):c.130C>T (p.Gln44Ter) rs1597385694
NM_022041.4(GAN):c.1343G>T (p.Trp448Leu) rs1597407111
NM_022041.4(GAN):c.1420G>C (p.Gly474Arg) rs1435035575
NM_022041.4(GAN):c.145G>A (p.Ala49Thr) rs1597385703
NM_022041.4(GAN):c.146C>A (p.Ala49Glu) rs1597385706
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.151G>C (p.Ala51Pro) rs750258209
NM_022041.4(GAN):c.154A>G (p.Ser52Gly) rs1597385719
NM_022041.4(GAN):c.1553_1554del (p.Phe518fs) rs1597414034
NM_022041.4(GAN):c.158C>T (p.Pro53Leu) rs1597385722
NM_022041.4(GAN):c.1633C>T (p.Arg545Cys) rs112201678
NM_022041.4(GAN):c.168-1G>A rs1597399963
NM_022041.4(GAN):c.1709G>A (p.Cys570Tyr) rs1597414244
NM_022041.4(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.4(GAN):c.20_57del (p.Val7fs) rs1316993088
NM_022041.4(GAN):c.213T>A (p.Tyr71Ter) rs750735081
NM_022041.4(GAN):c.224T>A (p.Leu75His) rs1597399997
NM_022041.4(GAN):c.244G>T (p.Val82Phe) rs371054532
NM_022041.4(GAN):c.256A>T (p.Ile86Phe) rs1597400020
NM_022041.4(GAN):c.266A>G (p.Tyr89Cys) rs1597400024
NM_022041.4(GAN):c.282+3A>C rs1597400032
NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del) rs1597401516
NM_022041.4(GAN):c.371T>G (p.Phe124Cys) rs1597401545
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.583G>T (p.Val195Phe) rs1432344872
NM_022041.4(GAN):c.633+1G>T rs1597401738
NM_022041.4(GAN):c.724C>T (p.Arg242Ter) rs764816887
NM_022041.4(GAN):c.732del (p.Ile244fs) rs1597402826
NM_022041.4(GAN):c.896A>C (p.Tyr299Ser) rs1254823893
NM_022041.4(GAN):c.926T>G (p.Leu309Arg) rs1597403384
NM_022041.4(GAN):c.973G>A (p.Glu325Lys) rs1597403411
NM_022041.4(GAN):c.98A>C (p.His33Pro) rs1597385674
NM_022041.4(GAN):c.994G>A (p.Gly332Arg) rs1567494825

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.