ClinVar Miner

List of variants in gene PRX reported by Inherited Neuropathy Consortium

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_181882.2(PRX):c.1090C>T (p.Arg364Ter)
NM_181882.2(PRX):c.1173del (p.Arg392fs)
NM_181882.2(PRX):c.1174C>T (p.Arg392Ter) rs773009397
NM_181882.2(PRX):c.1194_1197del (p.Leu400fs)
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.1639C>T (p.Gln547Ter)
NM_181882.2(PRX):c.1864C>T (p.Gln622Ter)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2035C>T (p.Arg679Ter)
NM_181882.2(PRX):c.2044G>T (p.Glu682Ter)
NM_181882.2(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.2(PRX):c.2421del (p.Lys808fs)
NM_181882.2(PRX):c.2551_2552TC[1] (p.Thr853fs)
NM_181882.2(PRX):c.2744A>T (p.Glu915Val)
NM_181882.2(PRX):c.2909G>A (p.Arg970Gln)
NM_181882.2(PRX):c.3099del (p.Glu1034fs)
NM_181882.2(PRX):c.3198del (p.Phe1066fs)
NM_181882.2(PRX):c.3772_3773delinsA (p.Gly1258fs)
NM_181882.2(PRX):c.385_394dup (p.Leu132fs)
NM_181882.2(PRX):c.4138C>T (p.Arg1380Cys) rs771840476
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.589G>T (p.Glu197Ter)
NM_181882.2(PRX):c.642dup (p.Arg215fs)
NM_181882.2(PRX):c.730del (p.Ala244fs)
NM_181882.2(PRX):c.773_774dup (p.Ser259fs)
NM_181882.2(PRX):c.875_906del (p.Val292fs)
NM_181882.2(PRX):c.915_923dup (p.305_307TLP[3])
NM_181882.2(PRX):c.924A>T (p.Thr308=)
NM_181882.2(PRX):c.927T>G (p.Leu309=)

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.