ClinVar Miner

List of variants reported as benign for Giant axonal neuropathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.*472C>G rs1816122 0.61663
NM_022041.4(GAN):c.*592T>A rs1345895 0.59860
NM_022041.4(GAN):c.*247G>A rs2216769 0.57491
NM_022041.4(GAN):c.*967G>A rs12920236 0.41705
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_022041.4(GAN):c.*2188T>C rs2290949 0.09906
NM_022041.4(GAN):c.*235T>C rs16955203 0.09324
NM_022041.4(GAN):c.*1817G>C rs73602873 0.05804
NM_022041.4(GAN):c.*764G>A rs1934 0.05779
NM_022041.4(GAN):c.*227G>A rs113970605 0.05772
NM_022041.4(GAN):c.*1658T>G rs16955221 0.05141
NM_022041.4(GAN):c.*1068T>G rs57170812 0.05139
NM_022041.4(GAN):c.*1250T>G rs61096092 0.05139
NM_022041.4(GAN):c.*1388A>G rs41484544 0.05121
NM_022041.4(GAN):c.*2498T>G rs2290948 0.04199
NM_022041.4(GAN):c.*294A>G rs16955210 0.04160
NM_022041.4(GAN):c.*81T>C rs78835723 0.03196
NM_022041.4(GAN):c.*2322T>G rs11862952 0.02277
NM_022041.4(GAN):c.*1908A>C rs11861082 0.01673
NM_022041.4(GAN):c.*1273G>C rs75176423 0.01472
NM_022041.4(GAN):c.*159C>T rs76000455 0.01456
NM_022041.4(GAN):c.46C>T (p.Leu16=) rs77470936 0.00993
NM_022041.4(GAN):c.1612+13C>G rs80326128 0.00917
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_022041.4(GAN):c.*1113G>A rs114880082 0.00415
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.*372G>A rs79192026 0.00361
NM_022041.4(GAN):c.1182C>T (p.Tyr394=) rs150102659 0.00357
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_022041.4(GAN):c.633+19A>G rs112194888 0.00138
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_022041.4(GAN):c.974-11G>C rs753746307 0.00026
NM_022041.4(GAN):c.634-15T>C rs367608270 0.00013
NM_022041.4(GAN):c.1373+18G>A rs187260981 0.00006
NM_022041.4(GAN):c.159G>T (p.Pro53=) rs753351243 0.00002
NM_022041.4(GAN):c.*237T>A rs113064319
NM_022041.4(GAN):c.-75G>C rs117642837
NM_022041.4(GAN):c.1086+25_1086+28del rs561109989
NM_022041.4(GAN):c.168-12dup
NM_022041.4(GAN):c.1728G>C (p.Ala576=) rs150342446
NM_022041.4(GAN):c.282+7_282+9del rs563977770

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.