ClinVar Miner

List of variants reported as uncertain significance for congenital fibrosis of extraocular muscles type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
NM_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
NM_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_017641.3(KIF21A):c.-203C>G rs886049349

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.