ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.*1251A>G rs7102 0.36899
NM_001136472.2(LITAF):c.*796T>C rs1198 0.18402
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001136472.2(LITAF):c.-6+594A>G rs12921437 0.13319
NM_001136472.2(LITAF):c.*1415C>A rs80119580 0.03674
NM_001136472.2(LITAF):c.*816T>A rs7187810 0.03432
NM_001136472.2(LITAF):c.*421C>T rs13336723 0.02660
NM_001136472.2(LITAF):c.*143C>T rs1801977 0.02394
NM_001136472.2(LITAF):c.*439G>A rs13337025 0.02310
NM_001136472.2(LITAF):c.*711G>T rs117082330 0.01448
NM_001136472.2(LITAF):c.*1493T>G rs77423500 0.01358
NM_001136472.2(LITAF):c.*933C>T rs75472256 0.01353
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001136472.2(LITAF):c.*99C>T rs149712652 0.00476
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001136472.2(LITAF):c.*1627G>A rs62022848 0.00025
NM_001136472.2(LITAF):c.*500A>G rs767760361 0.00024
NM_001136472.2(LITAF):c.*904G>A rs192766322 0.00024
NM_001136472.2(LITAF):c.*1364A>C rs775642546 0.00019
NM_001136472.2(LITAF):c.241G>A (p.Val81Met) rs201653834 0.00018
NM_001136472.2(LITAF):c.-6+539G>A rs545189325 0.00016
NM_001136472.2(LITAF):c.-6+657C>A rs374282727 0.00013
NM_001136472.2(LITAF):c.*1853A>G rs759832566 0.00011
NM_001136472.2(LITAF):c.*1054A>C rs967890581 0.00010
NM_001136472.2(LITAF):c.*598G>A rs367546754 0.00010
NM_001136472.2(LITAF):c.*1632C>G rs74808365 0.00009
NM_001136472.2(LITAF):c.*1879A>G rs760630375 0.00006
NM_001136472.2(LITAF):c.147G>A (p.Thr49=) rs145659732 0.00006
NM_001136472.2(LITAF):c.310G>A (p.Val104Met) rs373445989 0.00006
NM_001136472.2(LITAF):c.*882G>A rs535657236 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001136472.2(LITAF):c.*193G>A rs886051652 0.00004
NM_001136472.2(LITAF):c.-6+558C>T rs528624227 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr) rs543022814 0.00003
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001136472.2(LITAF):c.*1170A>G rs886051648 0.00001
NM_001136472.2(LITAF):c.*1422A>G rs1005760992 0.00001
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val) rs201512884 0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr) rs368574479 0.00001
NM_001136472.2(LITAF):c.*1217A>C rs942172049
NM_001136472.2(LITAF):c.*1386G>A rs184312185
NM_001136472.2(LITAF):c.*1399C>A rs774513067
NM_001136472.2(LITAF):c.*1436T>G rs2064132273
NM_001136472.2(LITAF):c.*1557C>A rs886051647
NM_001136472.2(LITAF):c.*234C>A rs1370604103
NM_001136472.2(LITAF):c.*294A>T rs886051651
NM_001136472.2(LITAF):c.*33G>A rs766852963
NM_001136472.2(LITAF):c.*453C>A rs192516633
NM_001136472.2(LITAF):c.*563A>C rs2064145331
NM_001136472.2(LITAF):c.*723A>G rs886051650
NM_001136472.2(LITAF):c.*949A>G rs886051649
NM_001136472.2(LITAF):c.-6+513G>C rs2064807880
NM_001136472.2(LITAF):c.-6+618C>G rs962811879
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136472.2(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr) rs2064215812

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.