ClinVar Miner

List of variants reported as not provided for Hypomyelinating leukodystrophy 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) rs886041015
NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr) rs886041016
NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp) rs886041017
NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile) rs886041018
NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu) rs886041018
NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val) rs886041019
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) rs797045074
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys) rs886041022
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly) rs587776983
NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp) rs587776983
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) rs587777468
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met) rs587777468
NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr) rs886041008
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) rs761635539
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) rs587777467
NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe) rs886041009
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) rs886041007
NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp) rs886041010
NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val) rs886041010
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro) rs756762431
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) rs886041011
NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile) rs886041012
NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val) rs886041013
NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg) rs886041014

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.