ClinVar Miner

List of variants reported as pathogenic for ocular motility disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (160):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NC_000005.10:g.139189727_139201554del
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604

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