ClinVar Miner

List of variants reported as pathogenic for congenital fibrosis of extraocular muscles by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390 0.00003
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) rs121912588
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) rs121912589
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) rs121912590
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) rs267607200
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) rs121912586
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) rs121912587
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005169.4(PHOX2A):c.217+1G>A rs1590729541
NM_005169.4(PHOX2A):c.406-1G>A rs1178102382
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) rs267607164
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741
NM_198721.4:c.368-5122_708+6063del

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