ClinVar Miner

List of variants reported as pathogenic for eyelid disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_001042545.2(LTBP4):c.113del (p.Pro38fs)
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)

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