ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2X by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00892
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025137.4(SPG11):c.616dup (p.Thr206fs) rs756103019 0.00003
NM_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00001
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter) rs372906057 0.00001
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr) rs748258958 0.00001
NM_025137.4(SPG11):c.5866+1G>A rs765725393 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1275del (p.Ile425fs)
NM_025137.4(SPG11):c.1326dup (p.Val443fs) rs2505725884
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1602+1G>A rs2505710044
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs) rs2505601720
NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)
NM_025137.4(SPG11):c.1845_1848del (p.Phe617fs)
NM_025137.4(SPG11):c.1987_1988del (p.Asp663fs)
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2849del (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)
NM_025137.4(SPG11):c.2984_2985del (p.Tyr995fs)
NM_025137.4(SPG11):c.3016dup (p.Tyr1006fs)
NM_025137.4(SPG11):c.3039-1G>A
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3146-1G>C
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter) rs2505482825
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer) rs768131119
NM_025137.4(SPG11):c.3372del (p.Lys1125fs)
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025137.4(SPG11):c.3902dup (p.Ser1302fs)
NM_025137.4(SPG11):c.4000_4001del (p.Arg1334fs)
NM_025137.4(SPG11):c.4002-2A>C
NM_025137.4(SPG11):c.4162-10T>G rs765557765
NM_025137.4(SPG11):c.4276_4277del (p.Lys1426fs)
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter) rs2505369754
NM_025137.4(SPG11):c.4404_4407del (p.Ile1469fs)
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4492_4493del (p.Val1498fs)
NM_025137.4(SPG11):c.4580del (p.Leu1527fs)
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter) rs1362530862
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.4868del (p.Leu1623fs)
NM_025137.4(SPG11):c.4868dup (p.Leu1623fs)
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer) rs2505300947
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.5599del (p.Glu1867fs)
NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)
NM_025137.4(SPG11):c.5697_5706del (p.Tyr1900fs)
NM_025137.4(SPG11):c.5794del (p.His1932fs) rs2505289556
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter) rs312262774
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6006+1_6006+5del
NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=) rs2082470151
NM_025137.4(SPG11):c.6206-2A>G
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs) rs1555447459
NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)
NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)
NM_025137.4(SPG11):c.6343+2T>C
NM_025137.4(SPG11):c.6477+1G>C
NM_025137.4(SPG11):c.6493G>A (p.Gly2165Ser)
NM_025137.4(SPG11):c.6595del (p.Thr2198_Leu2199insTer)
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025137.4(SPG11):c.6773_6783del (p.Gly2258fs)
NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs) rs780301639
NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)
NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)
NM_025137.4(SPG11):c.793del (p.Ser265fs)
NM_025137.4(SPG11):c.856_857dup (p.Asn286fs)

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.