ClinVar Miner

List of variants in gene GAN reported as pathogenic for Giant axonal neuropathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.3(GAN):c.1157del (p.Lys386fs) rs1555511861
NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.3(GAN):c.1373+1G>A rs1597407138
NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) rs119485089
NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) rs119485088
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.43C>A (p.Arg15Ser) rs119485093
NM_022041.3(GAN):c.505G>A (p.Glu169Lys) rs119485095
NM_022041.3(GAN):c.601C>T (p.Arg201Ter) rs119485090
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter)
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer)
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer)
NM_022041.4(GAN):c.993del (p.Phe331fs)

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.