ClinVar Miner

List of variants studied for Hypomyelinating leukodystrophy 6 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006087.4(TUBB4A):c.*111G>C rs446199 0.76464
NM_006087.4(TUBB4A):c.774T>C (p.Val258=) rs2071347 0.70114
NM_006087.4(TUBB4A):c.*673A>G rs1053377 0.57285
NM_006087.4(TUBB4A):c.*260G>C rs3099129 0.50619
NM_006087.4(TUBB4A):c.*804C>G rs1053395 0.20756
NM_006087.4(TUBB4A):c.*96C>G rs449824 0.06110
NM_006087.4(TUBB4A):c.342C>T (p.Asp114=) rs61741669 0.03618
NM_006087.4(TUBB4A):c.*400G>A rs8113500 0.03568
NM_006087.4(TUBB4A):c.*700T>A rs73920690 0.03486
NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=) rs61731566 0.02245
NM_006087.4(TUBB4A):c.*627A>C rs1469859932 0.01716
NM_006087.4(TUBB4A):c.921C>T (p.His307=) rs118102196 0.01521
NM_006087.4(TUBB4A):c.*53G>A rs113953942 0.01338
NM_006087.4(TUBB4A):c.*3T>C rs150446118 0.00998
NM_001289123.1(TUBB4A):c.*856G>A rs140030420 0.00381
NM_006087.4(TUBB4A):c.*429C>T rs567346964 0.00380
NM_006087.4(TUBB4A):c.*493C>G rs111966371 0.00373
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=) rs149903666 0.00277
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=) rs150812047 0.00251
NM_006087.4(TUBB4A):c.-62C>T rs774284850 0.00075
NM_006087.4(TUBB4A):c.*100G>A rs528792394 0.00042
NM_006087.4(TUBB4A):c.*725G>A rs370034465 0.00027
NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=) rs148507956 0.00026
NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=) rs142792302 0.00020
NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=) rs199666595 0.00011
NM_006087.4(TUBB4A):c.*800G>A rs781702991 0.00006
NM_006087.4(TUBB4A):c.435C>T (p.Ser145=) rs200757174 0.00006
NM_006087.4(TUBB4A):c.*36C>G rs759397360 0.00003
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) rs146906606 0.00002
NM_006087.4(TUBB4A):c.*579C>T rs143637409 0.00001
NM_006087.4(TUBB4A):c.*86G>A rs867164852 0.00001
NM_006087.4(TUBB4A):c.210C>T (p.Pro70=) rs557747150 0.00001
NM_006087.4(TUBB4A):c.*304C>T rs1914042322
NM_006087.4(TUBB4A):c.*440C>T rs886054651
NM_006087.4(TUBB4A):c.*633C>A rs74383079
NM_006087.4(TUBB4A):c.*69C>G rs564748070
NM_006087.4(TUBB4A):c.*792C>T rs1914007188
NM_006087.4(TUBB4A):c.167-12G>C rs1914527740
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) rs587777467
NM_006087.4(TUBB4A):c.630C>T (p.Ile210=) rs1268743523
NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile) rs2145244590

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.