ClinVar Miner

List of variants reported as likely pathogenic for corneal disorder by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_012293.3(PXDN):c.1018+1G>A
NM_012293.3(PXDN):c.3964del (p.Arg1322fs)

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