ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_001145.4(ANG):c.-332C>A rs28589501 0.10899
NM_001145.4(ANG):c.-530T>C rs117053048 0.02510
NM_001145.4(ANG):c.-579G>C rs117466368 0.02509
NM_001145.4(ANG):c.-401G>T rs45591635 0.02505
NM_002937.5(RNASE4):c.-40T>C rs117978329 0.02505
NM_001145.4(ANG):c.-534C>T rs117787610 0.01793
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_001145.4(ANG):c.-383C>G rs113950902 0.00124
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001145.4(ANG):c.-423C>T rs149147430 0.00078
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_001145.4(ANG):c.-524G>A rs886050395 0.00020
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_002937.5(RNASE4):c.-167A>G rs374332721 0.00002
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.*81A>C rs550007170
NM_001097577.3(ANG):c.-18-4G>A rs373669465
NM_001097577.3(ANG):c.224G>A (p.Arg75His) rs146485834
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001145.4(ANG):c.-237A>C rs45525731
NM_001145.4(ANG):c.-381C>T rs886050396
NM_001145.4(ANG):c.-542G>A rs1886313088
NM_001145.4(ANG):c.-594C>A rs886050394
NM_002937.5(RNASE4):c.-114G>C rs886050397

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.